Materiały źródłowe

• #1 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  Named after the three doctors who first described it in 1886: Charcot (shar-coh), Marie, and Tooth, Charcot-Marie-Tooth disease (CMT) is an inheritable peripheral neuropathy that includes many motor and/or sensory neuropathies, axonopathies, myelinopathies, and neuronopathies. Due to the degradation of their nerves, people with CMT suffer lifelong progressive muscle weakness and atrophy of the arms and legs, progressive sensory loss, and CMT can affect other parts of the body. This leads to problems with balance, walking, hand use, and more. There currently is no treatment or cure for this debilitating and often overlooked disease. […] EARLY SIGNS AND SYMPTOMS OF CMT might include but are not limited to toe-walking (especially in children), frequent tripping caused by catching the toes due to a weakening of the muscles that pick up the front of the foot (foot drop), frequent ankle rolls/sprains, frequent muscle cramps in the hands and problems with using pens/pencils/crayons and eating utensils, and issues with other tasks involving fine motor skillszippers, buttons, keys, etc.

• #1

  https://www.nhs.uk/conditions/charcot-marie-tooth-disease/symptoms/

  The symptoms of Charcot-Marie-Tooth disease (CMT) can differ from person to person, even among relatives with the condition. […] Symptoms can vary depending on the type of CMT, and even people with the same type can experience it differently. […] CMT is a progressive condition, which means the symptoms gradually get worse over time. […] The main symptoms of CMT usually appear between the ages of 5 and 15, although they sometimes do not develop until well into middle age or later. […] Some of the main symptoms of CMT include: muscle weakness in the feet, ankles and legs at first, feet that are very highly arched, which can make the ankle unstable, or having very flat feet, curled toes (hammer toes), an awkward or high step and difficulty using the ankle muscles to lift the foot, which makes walking more difficult, a lack of sensation in the arms and feet, cold hands and feet caused by poor circulation, wasting of the muscles in the lower legs, causing legs to have a distinctive „upside-down champagne bottle” shape, feeling tired a lot of the time as a result of the extra effort it takes to move around.

• #1 Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

  CMT symptoms usually start in your early teenage years, but can start earlier during childhood or later during middle age. Issues usually appear and develop slowly, getting progressively worse over time. […] The symptoms of Charcot-Marie-Tooth disease usually affect movement and your senses, especially touch, vision and hearing. Charcot-Marie-Tooth disease can affect your body in several ways, including problems with muscle control and movement or how your senses work. […] CMT has two main types of symptoms depending on which types of nerve signals the condition affects. The affected signals are either motor or sensory. […] The motor symptoms of CMT affect your muscles. These include: Muscle weakness. Paralysis. Loss of muscle mass (muscle atrophy). Decreased or no reflexes. Hammertoes. Foot drop (a very high foot arch). Trips and falls because of gait disorders and changes in how the muscles in your legs and feet work. Repeated ankle sprains. Breathing problems (this usually only happens in severe cases).

• #1 Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

  The sensory symptoms of Charcot-Marie-Tooth disease include: Numbness or tingling. Inability to feel heat or pain sensations in your lower legs, feet and hands. Creeping sensations in your legs. Chronic pain. Loss or decrease in other senses, especially vision and hearing (these are less common and usually only happen with specific subtypes of CMT). […] In general, CMT isnt a dangerous condition, except with specific subtypes of this disease that are very severe. Most people with CMT will develop problems with moving or using certain senses, but these rarely affect how long you live. […] With the severe forms of this condition, the most dangerous issue is weakness in the muscles that control breathing and swallowing. These can lead to respiratory failure, pneumonia and other issues, which can become deadly. These are more likely when you develop CMT symptoms earlier in life, especially during childhood. […] CMT is a permanent, lifelong condition. You have it when youre born, but most people dont show its symptoms until theyre adults. Theres also no way to cure it, and it doesnt go away on its own.

• #1 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  CMT OFTEN CAUSES NUMBNESS, especially in the points farthest away from the spinal cord (distal), such as the hands and feet. Hand numbness can be random and episodic. Its not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks or even months. […] CMT OFTEN CAUSES SEVERE CHRONIC PAIN. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, its muscle and joint pain (musculoskeletal). For many who have CMT, it can be both. […] CMT OFTEN CAUSES A GREAT DEAL OF FATIGUE. Its well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. […] CMT OFTEN CAUSES HIGH ARCHES as part of whats called cavovarus (cay-voh-vayr-us) foot deformity. A cavovarus foot has a high arch, is twisted downward towards the front, and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot.

• #1 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  KNEECAP DISLOCATIONS CAN COMMONLY OCCUR IN CMT, especially in children. A condition called patella alta, or what is a kneecap (patella) that is located higher up the leg than it should be (alta), is experienced by many who have CMT. This is likely caused by a weakening of the leg muscles and likely contributes to the dislocations. […] CMT OFTEN CAUSES FINGER CONTRACTURES (clawed hands), toe contractures, tremor, absent or reduced reflexes, poor circulation (neuromuscular-induced venous insufficiency), scoliosis, kyphosis (kyphoscoliosis when scoliosis and kyphosis occur together), and the list goes on. […] LESS COMMON, BUT STILL QUITE TROUBLESOME, CMT can cause neurogenic bladder issues, neurogenic bowel issues, vision problems (due to optic atrophy and/or slowly reactive pupils), vestibular issues leading to worsened balance, speech/vocal issues, swallowing/choking issues, and breathing issues.

• #1 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  Charcot-Marie-Tooth disease (CMT) is the most common form of inherited peripheral neuropathy, with a prevalence of one in 2,500 people. CMT patients usually present muscle atrophy, sensory loss, foot deformities, and areflexia. However, CMT is a clinically and genetically heterogeneous disease, and some subtypes reveal unusual clinical features, including pyramidal features, vocal cord paralysis, hearing loss, or optic atrophy. Furthermore, CMT is divided into three categories based on its pathology, namely demyelinating, axonal, and intermediate neuropathy. Intermediate CMT neuropathy was reported to be characterized by both demyelination and axonal degeneration in peripheral nerve biopsies. Demyelinating and axonal CMT neuropathy can be generally distinguished by assessing the median motor nerve conduction velocity (NCV), which is lower and higher than 38 m/sec, respectively. Intermediate neuropathy usually ranges from 30 to 40 m/sec. As more than 90 causative genes for CMT were found up to date, this disease is categorized into numerous subtypes.

• #1 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Patients have varying severities of CMT, spanning a spectrum from minimally symptomatic to severe. Concomitant illnesses such as hypothyroidism, diabetes, obesity, and toxin exposure increase impairment in these patients. Early or infantile-onset CMT usually correlates with worse disability. […] The history of the current illness includes assessments of pain, weakness, loss of sensation, foot deformities, and muscle cramps. Symptoms include difficulty walking fast or running, tripping, falls, and twisting or spraining ankles. Young patients with CMT may experience delayed motor milestones. […] Physical examination may reveal foot deformities such as pes cavus (high arches) or hammer toes and subtle wasting of hypothenar muscles in patients with long-standing disease due to the weakness of the intrinsic muscles of the hand. Atrophy of the lower legs and distal thighs may cause the „stork leg deformity.” Spinal deformities (scoliosis) may also occur. Early and severe scoliosis is suggestive of, but is not an exclusive feature of, SH3TC2 mutations.

• #1 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, characterized by progressive weakness of the extremities due to peripheral nerve damage. The disease primarily affects the lower limbs, leading to foot deformities, sensory loss, and muscle weakness. Symptoms typically appear in the first or second decade of life. Occasionally, CMT also involves the cranial nerves, other areas of the neuraxis, and various organ systems. […] CMT is a nerve-length-dependent disorder characterized by slowly progressive foot deformities (most often pes cavus), sensory loss, weakness in the lower extremities, and reduced or absent deep tendon reflexes. Most individuals with CMT exhibit symptoms in the first or second decade of life, with an insidious onset of weakness that begins in the lower extremities and later involves the upper extremities.

• #2 Charcot-Marie-Tooth Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1232386-overview

  Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. It is characterized by inherited neuropathies without known metabolic derangements. […] Currently, no proven medical treatment exists to reverse or slow the natural disease process for the underlying disorder. […] Prognoses for the different types of CMT disease vary and depend on clinical severity. Generally, CMT disease is a slowly progressive neuropathy that causes eventual disability secondary to distal muscle weakness and deformities. Motor performance deterioration in CMT 1A appears to accelerate after age 50 years. […] In rare cases, phrenic nerve involvement of the diaphragm can cause ventilatory difficulties. CMT disease does not usually shorten the expected life span.

• #2

  https://www.nhs.uk/conditions/charcot-marie-tooth-disease/

  People with CMT may have: muscle weakness in their feet, ankles, legs and hands […] The symptoms of CMT usually start to appear between the ages of 5 and 15, although they sometimes do not develop until well into middle age or later. […] CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.

• #2 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease

  Charcot-Marie-Tooth disease (CMT) causes a range of sensory and motor symptoms, including numbness, tingling, pain, muscle weakness and atrophy, and foot deformities that get worse over time. […] CMT often affects nerves that control a persons muscles, causing muscle weakness or muscle shrinking (called atrophy). Muscle weakness from CMT usually starts in the feet and lower legs during the teen years or early adulthood, but symptoms can appear at any age. Over time, the weakness can spread to the fingers, hands, and arms. […] Symptoms may include: Weakness or paralysis in the foot and lower leg muscles, making it hard to lift the foot (foot drop) […] Balance problems […] Foot deformities, like high arches and curled toes (hammertoes) […] Muscle cramps […] The severity of symptoms can be very different from person to person, even among family members with CMT and the same gene mutation. Symptoms tend to progress slowly over time.

• #2 Signs and Symptoms of Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/charcot-marie-tooth/signs-and-symptoms

  Usually, weakness begins in the feet and ankles and manifests itself as foot drop difficulty lifting the foot at the ankle, so that the toes point downward during walking. […] Because CMT causes damage to sensory nerve fibers (axons), people with CMT can feel tingling and burning sensations in the hands and feet, usually causing only mild discomfort but sometimes causing pain. […] Even though they may have sensory loss, many people with CMT experience cold hands and feet, which may be related to loss of insulating muscle in these areas.

• #2 Symptoms of Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth NewsEnvelope icon

  https://charcot-marie-toothnews.com/symptoms-of-charcot-marie-tooth-disease/

  Changes in the ability of muscles to contract may lead to tripping and frequent falls. […] CMT can damage the cochlear nerve, the sensory nerve responsible for transmitting the electrical signals that enable hearing. […] As such, a patient’s ability to hear is reduced, which usually occurs in both ears. Hearing loss can range from mild to severe in CMT, and patients usually have difficulty hearing mid- and high-frequency sounds. […] This symptom may be present from infancy and worsen with disease progression. […] The phrenic nerve, which controls the diaphragm muscle, can be affected by CMT. Breathing problems in CMT are usually not severe, but they can be life-threatening in rare cases. […] Fatigue is a common symptom in CMT. It results from the greater energy it takes to compensate for weakened muscles in walking, standing, and doing everyday activities.

• #2 Charcot-Marie-Tooth Disease – Seattle Children’s

  https://www.seattlechildrens.org/conditions/charcot-marie-tooth-disease/

  Loss of muscle (atrophy). Your childs lower leg may look thinner than usual. […] Weak hand muscles, which might cause problems with writing or holding things. […] Bone and joint problems caused by stronger muscles pulling against weaker muscles (muscle imbalance). […] Toes bent at the middle joint (hammertoe) or high arches (cavus foot). […] Loss of some feeling in the feet and hands. […] Numbness, tingling or burning feeling, usually mild. […] Less common symptoms: Pain from nerve damage or muscle cramps […] Problems with curved spine (scoliosis or kyphosis) or with the hip bone and socket (hip dysplasia) caused by muscle imbalance […] Trouble breathing, swallowing or speaking, if CMT affects nerves that control the muscles used in these actions.

• #2 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1 is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow NCV. The age of onset of CMT1 greatly varies, ranging from infancy to the fourth or subsequent decades of life. Although patients usually have their first symptoms between their first and the second decade of life, several other clinical manifestations may appear later. Furthermore, its clinical severity is also variable, fluctuating between an extremely mild form of the disease, which remains unrecognized, to a considerably serious form, which is associated with weakness and disability. Affected individuals typically develop distal weakness, symmetric atrophy of muscles (mainly peroneal), and reduced-to-absent tendon reflexes. Additionally, sensory deficits of position, vibration, and pain/temperature commonly occur in patients’ feet and, at a later stage, hands. Finally, pes cavus with hammer toes is frequently present since childhood, and variable scoliosis may develop during adolescence.

• #2 Charcot-Marie-Tooth (CMT): Symptoms, causes, types, and treatment

  https://www.medicalnewstoday.com/articles/172056

  Symptoms often appear in adolescence or early adulthood. […] Symptoms and their severity may vary considerably between individuals, even among close relatives who have inherited the condition. […] In time, the leg may change shape, becoming very thin below the knee, while the thighs retain their normal muscle volume and shape. […] Other symptoms often appear as the child finishes puberty and enters adulthood, but they can emerge at any age, from very young to the late 70s.

• #2 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  CMT is a group of insidiously progressive disorders characterized by increasing weakness and wasting of the extremities, which interfere with mobility and activities of daily living. The rate of progression varies among different forms of CMT. Although life expectancy is usually unaffected, the condition can be severe if early onset occurs. Periodic evaluation and interventions by an interprofessional rehabilitation team are essential for maintaining independence, safe ambulation, and functional activities.

• #3 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, characterized by progressive weakness of the extremities due to peripheral nerve damage. The disease primarily affects the lower limbs, leading to foot deformities, sensory loss, and muscle weakness. Symptoms typically appear in the first or second decade of life. Occasionally, CMT also involves the cranial nerves, other areas of the neuraxis, and various organ systems. […] CMT is a nerve-length-dependent disorder characterized by slowly progressive foot deformities (most often pes cavus), sensory loss, weakness in the lower extremities, and reduced or absent deep tendon reflexes. Most individuals with CMT exhibit symptoms in the first or second decade of life, with an insidious onset of weakness that begins in the lower extremities and later involves the upper extremities.

• #3 Charcot-Marie-Tooth Disease Causes, Symptoms, Treatment | HSS

  https://www.hss.edu/condition-list_charcot-marie-tooth-disease.asp

  The symptoms of CMT disease usually start in the first or second decade of life and often include weakness in the muscles of the feet, leading to frequent ankle sprains and clumsiness with everyday activities. The feet can develop high arches and claw toes. Patients may also develop hip dysplasia and scoliosis. Additionally, Charcot-Marie-Tooth disease may cause cardiovascular anomalies. […] There are various subtypes of Charcot-Marie-Tooth disease. The rarer autosomal recessive forms of CMT (where the mutation is inherited from both parents) often have an earlier presentation and worse prognosis than the more common autosomal dominant form. The more common form usually manifests in the first or second decade of life.

• #3

  https://www.nhs.uk/conditions/charcot-marie-tooth-disease/symptoms/

  The symptoms of Charcot-Marie-Tooth disease (CMT) can differ from person to person, even among relatives with the condition. […] Symptoms can vary depending on the type of CMT, and even people with the same type can experience it differently. […] CMT is a progressive condition, which means the symptoms gradually get worse over time. […] The main symptoms of CMT usually appear between the ages of 5 and 15, although they sometimes do not develop until well into middle age or later. […] Some of the main symptoms of CMT include: muscle weakness in the feet, ankles and legs at first, feet that are very highly arched, which can make the ankle unstable, or having very flat feet, curled toes (hammer toes), an awkward or high step and difficulty using the ankle muscles to lift the foot, which makes walking more difficult, a lack of sensation in the arms and feet, cold hands and feet caused by poor circulation, wasting of the muscles in the lower legs, causing legs to have a distinctive „upside-down champagne bottle” shape, feeling tired a lot of the time as a result of the extra effort it takes to move around.

• #3 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UK

  https://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/

  Muscle weakness in the hands can make it difficult to carry out fine motor skills like writing clearly and using buttons. The longest nerves are affected first. This means it usually takes several years before it can start to affect the hands. In some rare types of CMT, the hands may be affected before the feet. […] Sensory symptoms, such as numbness or tingling in the feet, are common and can occur in the hands too. This can sometimes feel like poor circulation, where the hands feel very cold. Numbness in the hands, along with muscle weakness, can make it difficult to carry out fine motor skills. […] As the condition progresses, there are two types of pain that are common for people with CMT. One is pain in the joints and muscles because of the strain that CMT puts on other parts of the body. The other is neuropathic pain caused by nerve damage, which can feel like burning, tingling, or sharp pain.

• #3 Charcot-Marie-Tooth Disease Symptoms | Charcot-Marie-Tooth NewsEnvelope icon

  https://charcot-marie-toothnews.com/charcot-marie-tooth-disease-symptoms/

  Charcot-Marie-Tooth (CMT) disease is a progressive condition that causes the motor and sensory nerves to weaken. Motor neurons control muscle contraction and voluntary muscle activities such as speaking, walking, breathing, and swallowing. The onset of the symptoms in CMT happens more frequently in adolescence or early adulthood and may differ between patients, even among relatives with the condition. […] CMT is characterized by progressive muscle weakness, but other symptoms such as fatigue can greatly affect patients’ quality of life. Fatigue is common in CMT patients and may be caused by sleep apnea, restless legs syndrome, or muscles having to work harder, expending more energy. […] CMT can damage cochlear nerves, which then reduces a patient’s ability to hear, and usually occurs in both ears. Hearing loss can range from mild to severe in CMT, and patients usually have difficulty hearing mid- and high-frequency sounds.

• #3 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  KNEECAP DISLOCATIONS CAN COMMONLY OCCUR IN CMT, especially in children. A condition called patella alta, or what is a kneecap (patella) that is located higher up the leg than it should be (alta), is experienced by many who have CMT. This is likely caused by a weakening of the leg muscles and likely contributes to the dislocations. […] CMT OFTEN CAUSES FINGER CONTRACTURES (clawed hands), toe contractures, tremor, absent or reduced reflexes, poor circulation (neuromuscular-induced venous insufficiency), scoliosis, kyphosis (kyphoscoliosis when scoliosis and kyphosis occur together), and the list goes on. […] LESS COMMON, BUT STILL QUITE TROUBLESOME, CMT can cause neurogenic bladder issues, neurogenic bowel issues, vision problems (due to optic atrophy and/or slowly reactive pupils), vestibular issues leading to worsened balance, speech/vocal issues, swallowing/choking issues, and breathing issues.

• #3 Charcot-Marie-Tooth Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1232386-overview

  Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. It is characterized by inherited neuropathies without known metabolic derangements. […] Currently, no proven medical treatment exists to reverse or slow the natural disease process for the underlying disorder. […] Prognoses for the different types of CMT disease vary and depend on clinical severity. Generally, CMT disease is a slowly progressive neuropathy that causes eventual disability secondary to distal muscle weakness and deformities. Motor performance deterioration in CMT 1A appears to accelerate after age 50 years. […] In rare cases, phrenic nerve involvement of the diaphragm can cause ventilatory difficulties. CMT disease does not usually shorten the expected life span.

• #3 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1A is characterized by a slow progression, insidious onset, variable severity, and genetic heterogeneity. The main symptoms comprise muscle weakness, muscle atrophy, walking difficulties, and foot drop in distal limbs. Furthermore, muscle cramps, distal sensory impairment, hyporeflexia, and areflexia may also appear. Pes cavus, hammer toes, foot deformities, and claw hand deformities may be observed in the lower and upper extremities, respectively, kyphoscoliosis of the spine may also be seen. Moreover, the motor NCV is reduced in CMT1A and hypertrophic nerve changes may occur. […] CMT2 presents normal-to-slightly slower motor NCV, it was associated with a smaller activity potential and damages to the axons in neurolytic studies. The age of onset greatly varies, even within families, ranging from childhood to older adulthood (60 years of age). The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear.

• #3 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Patients have varying severities of CMT, spanning a spectrum from minimally symptomatic to severe. Concomitant illnesses such as hypothyroidism, diabetes, obesity, and toxin exposure increase impairment in these patients. Early or infantile-onset CMT usually correlates with worse disability. […] The history of the current illness includes assessments of pain, weakness, loss of sensation, foot deformities, and muscle cramps. Symptoms include difficulty walking fast or running, tripping, falls, and twisting or spraining ankles. Young patients with CMT may experience delayed motor milestones. […] Physical examination may reveal foot deformities such as pes cavus (high arches) or hammer toes and subtle wasting of hypothenar muscles in patients with long-standing disease due to the weakness of the intrinsic muscles of the hand. Atrophy of the lower legs and distal thighs may cause the „stork leg deformity.” Spinal deformities (scoliosis) may also occur. Early and severe scoliosis is suggestive of, but is not an exclusive feature of, SH3TC2 mutations.

• #3 Charcot-Marie-Tooth disease | healthdirect

  https://www.healthdirect.gov.au/charcot-marie-tooth-disease

  Charcot-Marie-Tooth disease (CMT) is a group of genetic conditions that affect your nervous system. […] CMT is a progressive condition, which means it tends to get worse over time. […] CMT is a progressive condition, which means it gets worse over time. It affects people in different ways. […] Most people with CMT first show signs of the condition by the age of 20 years. […] The most common features are weakness and atrophy (loss of muscle bulk) of the lower legs and feet. […] Problems usually start in the muscles that support your feet, then later in your hands. […] Symptoms vary from person to person, but can include: difficulties with balance, difficulty finding well-fitting shoes due to high foot arches, problems walking, twisting of your ankles, feet slapping. […] Features are normally symmetrical (happen on both sides of your body). […] The most distant muscles are affected first. So, your feet will be affected before your ankles. Which are in turn affected before your hands.

• #4 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Patients have varying severities of CMT, spanning a spectrum from minimally symptomatic to severe. Concomitant illnesses such as hypothyroidism, diabetes, obesity, and toxin exposure increase impairment in these patients. Early or infantile-onset CMT usually correlates with worse disability. […] The history of the current illness includes assessments of pain, weakness, loss of sensation, foot deformities, and muscle cramps. Symptoms include difficulty walking fast or running, tripping, falls, and twisting or spraining ankles. Young patients with CMT may experience delayed motor milestones. […] Physical examination may reveal foot deformities such as pes cavus (high arches) or hammer toes and subtle wasting of hypothenar muscles in patients with long-standing disease due to the weakness of the intrinsic muscles of the hand. Atrophy of the lower legs and distal thighs may cause the „stork leg deformity.” Spinal deformities (scoliosis) may also occur. Early and severe scoliosis is suggestive of, but is not an exclusive feature of, SH3TC2 mutations.

• #4 Signs and Symptoms of Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/charcot-marie-tooth/signs-and-symptoms

  Partly because there are different types of Charcot-Marie-Tooth disease (CMT), the exact symptoms vary greatly from person to person. […] The most common initial presentation of CMT is distal weakness and atrophy, which manifest with foot drop and pes cavus (high arched feet). […] Many patients with CMT eventually develop contractures (stiffened joints) that result in deformities of the feet and hands. […] As CMT progresses, contractures in the hand can lock the fingers in a flexed position, and in rare cases, severe proximal weakness can lead to scoliosis (side-to-side curvature of the spine) or kyphosis (front-to-back spine curvature). […] In general, people with CMT experience slowly progressive weakness and wasting in the distal muscles, the muscles furthest from the center of the body.

• #4 Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

  CMT symptoms usually start in your early teenage years, but can start earlier during childhood or later during middle age. Issues usually appear and develop slowly, getting progressively worse over time. […] The symptoms of Charcot-Marie-Tooth disease usually affect movement and your senses, especially touch, vision and hearing. Charcot-Marie-Tooth disease can affect your body in several ways, including problems with muscle control and movement or how your senses work. […] CMT has two main types of symptoms depending on which types of nerve signals the condition affects. The affected signals are either motor or sensory. […] The motor symptoms of CMT affect your muscles. These include: Muscle weakness. Paralysis. Loss of muscle mass (muscle atrophy). Decreased or no reflexes. Hammertoes. Foot drop (a very high foot arch). Trips and falls because of gait disorders and changes in how the muscles in your legs and feet work. Repeated ankle sprains. Breathing problems (this usually only happens in severe cases).

• #4 Charcot Marie Tooth Disease: Causes, Symptoms, & Diagnosis

  https://www.healthline.com/health/charcot-marie-tooth-disease

  As CMT progresses, you may experience difficulty with a range of voluntary movements. This can affect your fine motor skills, your mobility, and in some cases, your speaking, swallowing, or breathing. […] Many CMT symptoms can differ from person to person, but everyone with CMT will eventually develop muscle weakness and wasting in the limbs, reduced reflexes, and skeletal changes. Mild to moderate loss of sensation in your limbs is also common. […] CMT is not usually a life threatening condition. It will progress over time, but it often progresses slowly. The severity of CMT symptoms varies from one person to another. Many symptoms can be managed well with physical therapy, medication, and assistive devices.

• #4 Charcot-Marie-Tooth Disease – Seattle Children’s

  https://www.seattlechildrens.org/conditions/charcot-marie-tooth-disease/

  Loss of muscle (atrophy). Your childs lower leg may look thinner than usual. […] Weak hand muscles, which might cause problems with writing or holding things. […] Bone and joint problems caused by stronger muscles pulling against weaker muscles (muscle imbalance). […] Toes bent at the middle joint (hammertoe) or high arches (cavus foot). […] Loss of some feeling in the feet and hands. […] Numbness, tingling or burning feeling, usually mild. […] Less common symptoms: Pain from nerve damage or muscle cramps […] Problems with curved spine (scoliosis or kyphosis) or with the hip bone and socket (hip dysplasia) caused by muscle imbalance […] Trouble breathing, swallowing or speaking, if CMT affects nerves that control the muscles used in these actions.

• #4 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1 is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow NCV. The age of onset of CMT1 greatly varies, ranging from infancy to the fourth or subsequent decades of life. Although patients usually have their first symptoms between their first and the second decade of life, several other clinical manifestations may appear later. Furthermore, its clinical severity is also variable, fluctuating between an extremely mild form of the disease, which remains unrecognized, to a considerably serious form, which is associated with weakness and disability. Affected individuals typically develop distal weakness, symmetric atrophy of muscles (mainly peroneal), and reduced-to-absent tendon reflexes. Additionally, sensory deficits of position, vibration, and pain/temperature commonly occur in patients’ feet and, at a later stage, hands. Finally, pes cavus with hammer toes is frequently present since childhood, and variable scoliosis may develop during adolescence.

• #4 Charcot–Marie–Tooth disease – Wikipedia

  https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease

  Although the disease is typically slowly progressive and not life-threatening, the degree of disability can vary. […] The variation in symptoms and severity is influenced by the specific genetic mutation causing the condition. […] Neuropathic pain is a recognized symptom of Charcot-Marie-Tooth disease, although its presence and severity can vary greatly among individuals, and not all patients experience pain. […] GARS1-associated axonal neuropathy is a progressive condition that deteriorates over time.

• #4 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  CMT is a group of insidiously progressive disorders characterized by increasing weakness and wasting of the extremities, which interfere with mobility and activities of daily living. The rate of progression varies among different forms of CMT. Although life expectancy is usually unaffected, the condition can be severe if early onset occurs. Periodic evaluation and interventions by an interprofessional rehabilitation team are essential for maintaining independence, safe ambulation, and functional activities.

• #5 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  Named after the three doctors who first described it in 1886: Charcot (shar-coh), Marie, and Tooth, Charcot-Marie-Tooth disease (CMT) is an inheritable peripheral neuropathy that includes many motor and/or sensory neuropathies, axonopathies, myelinopathies, and neuronopathies. Due to the degradation of their nerves, people with CMT suffer lifelong progressive muscle weakness and atrophy of the arms and legs, progressive sensory loss, and CMT can affect other parts of the body. This leads to problems with balance, walking, hand use, and more. There currently is no treatment or cure for this debilitating and often overlooked disease. […] EARLY SIGNS AND SYMPTOMS OF CMT might include but are not limited to toe-walking (especially in children), frequent tripping caused by catching the toes due to a weakening of the muscles that pick up the front of the foot (foot drop), frequent ankle rolls/sprains, frequent muscle cramps in the hands and problems with using pens/pencils/crayons and eating utensils, and issues with other tasks involving fine motor skillszippers, buttons, keys, etc.

• #5 Signs and Symptoms of Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/charcot-marie-tooth/signs-and-symptoms

  Usually, weakness begins in the feet and ankles and manifests itself as foot drop difficulty lifting the foot at the ankle, so that the toes point downward during walking. […] Because CMT causes damage to sensory nerve fibers (axons), people with CMT can feel tingling and burning sensations in the hands and feet, usually causing only mild discomfort but sometimes causing pain. […] Even though they may have sensory loss, many people with CMT experience cold hands and feet, which may be related to loss of insulating muscle in these areas.

• #5 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  CMT OFTEN CAUSES NUMBNESS, especially in the points farthest away from the spinal cord (distal), such as the hands and feet. Hand numbness can be random and episodic. Its not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks or even months. […] CMT OFTEN CAUSES SEVERE CHRONIC PAIN. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, its muscle and joint pain (musculoskeletal). For many who have CMT, it can be both. […] CMT OFTEN CAUSES A GREAT DEAL OF FATIGUE. Its well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. […] CMT OFTEN CAUSES HIGH ARCHES as part of whats called cavovarus (cay-voh-vayr-us) foot deformity. A cavovarus foot has a high arch, is twisted downward towards the front, and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot.

• #5

  https://www.nhs.uk/conditions/charcot-marie-tooth-disease/symptoms/

  As CMT progresses, the muscle weakness and lack of sensation gets worse and starts to affect your hands and arms more. […] Problems with mobility and walking tend to get worse with age. It’s uncommon to lose the ability to walk completely, but older people with CMT often need a walking aid to get around.

• #5 Charcot-Marie-Tooth Disease Symptoms | Charcot-Marie-Tooth NewsEnvelope icon

  https://charcot-marie-toothnews.com/charcot-marie-tooth-disease-symptoms/

  Some CMT patients may experience respiratory muscle weakness as a result of the disease, which can affect their ability to breathe. Rarely in CMT, the phrenic nerve, which controls the diaphragm muscle, may be affected, causing breathing problems. […] In CMT, the uneven weakening of muscles results in joints being pulled on unequally, which can eventually shift bones into abnormal positions and result in scoliosis, where the spine develops an abnormal sideways curvature.

• #5 Charcot Marie Tooth Disease Type 1A | CheckRare

  https://checkrare.com/charcot-marie-tooth-disease-type-1a/

  Charcot Marie Tooth type 1a is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. […] The severity of signs and symptoms of Charcot Marie Tooth disease type 1a (CMT1a) can vary greatly among affected individuals. […] The following is a list of reported signs and symptoms: Areflexia, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Hammertoe, Hearing impairment, Hypertrophic nerve changes, Hyporeflexia, Insidious onset, Juvenile onset, Kyphoscoliosis, Myelin outfoldings, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination, Slow progression, Steppage gait, Ulnar claw, Variable expressivity. […] CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. […] Worsening of signs and symptoms tends to be slow in the second to fourth decades of life.

• #5 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1A is characterized by a slow progression, insidious onset, variable severity, and genetic heterogeneity. The main symptoms comprise muscle weakness, muscle atrophy, walking difficulties, and foot drop in distal limbs. Furthermore, muscle cramps, distal sensory impairment, hyporeflexia, and areflexia may also appear. Pes cavus, hammer toes, foot deformities, and claw hand deformities may be observed in the lower and upper extremities, respectively, kyphoscoliosis of the spine may also be seen. Moreover, the motor NCV is reduced in CMT1A and hypertrophic nerve changes may occur. […] CMT2 presents normal-to-slightly slower motor NCV, it was associated with a smaller activity potential and damages to the axons in neurolytic studies. The age of onset greatly varies, even within families, ranging from childhood to older adulthood (60 years of age). The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear.

• #5 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Patients have varying severities of CMT, spanning a spectrum from minimally symptomatic to severe. Concomitant illnesses such as hypothyroidism, diabetes, obesity, and toxin exposure increase impairment in these patients. Early or infantile-onset CMT usually correlates with worse disability. […] The history of the current illness includes assessments of pain, weakness, loss of sensation, foot deformities, and muscle cramps. Symptoms include difficulty walking fast or running, tripping, falls, and twisting or spraining ankles. Young patients with CMT may experience delayed motor milestones. […] Physical examination may reveal foot deformities such as pes cavus (high arches) or hammer toes and subtle wasting of hypothenar muscles in patients with long-standing disease due to the weakness of the intrinsic muscles of the hand. Atrophy of the lower legs and distal thighs may cause the „stork leg deformity.” Spinal deformities (scoliosis) may also occur. Early and severe scoliosis is suggestive of, but is not an exclusive feature of, SH3TC2 mutations.

• #5 What Is Charcot-Marie-Tooth Disease (CMT)? | UC Health

  https://www.uchealth.com/en/conditions/charcot-marie-tooth-disease

  There is no cure for CMT. But these treatments can help: Physical therapy to strengthen and stretch your muscles. This may help prevent or delay disability caused by weakness and deformity. Occupational therapy to help with your daily activities. This includes using special devices like rubber grips, or changing from buttons and zippers to Velcro. Orthopedic devices like ankle braces, high-top boots, and thumb splints. Pain medicines if needed. […] CMT is not a fatal disease. Most people with it live to a normal age and remain active. In rare cases, it may affect the muscles you need to breathe. Because this can be especially dangerous at night, you may need a nighttime breathing assistive device. More common complications are: Injuries from falls. Worsening of the disease that certain medicines can cause. Injuries or infections of the feet that go unnoticed because of lack of pain and temperature sensation.

• #6 Understanding Charcot-Marie-Tooth Disease in Children | Charcot–Marie–Tooth Association

  https://www.cmtausa.org/understanding-cmt-in-children/

  Charcot-Marie-Tooth disease (CMT) affects the peripheral nerves; the nerves that send messages from the brain and spinal cord to the rest of the body. CMT damages these nerves, leading to sensory loss, problems with movement, and muscle weakness, making it more difficult to balance, walk, and perform everyday tasks. In some people, CMT causes pain, tiredness, breathing difficulties and other complications. CMT symptoms can start at any age and get worse over time. Although the rate of progression is usually slow, it varies between people; where some remain mildly affected, others have more severe symptoms. […] Children with CMT sometimes take longer to reach physical milestones, such as walking, hopping, jumping with two feet, or getting up and down stairs, and they can find it difficult to do activities that other children their age do easily. Sometimes, CMT symptoms do not show up until teenage years and even adulthood.

• #6 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  CMT OFTEN CAUSES NUMBNESS, especially in the points farthest away from the spinal cord (distal), such as the hands and feet. Hand numbness can be random and episodic. Its not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks or even months. […] CMT OFTEN CAUSES SEVERE CHRONIC PAIN. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, its muscle and joint pain (musculoskeletal). For many who have CMT, it can be both. […] CMT OFTEN CAUSES A GREAT DEAL OF FATIGUE. Its well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. […] CMT OFTEN CAUSES HIGH ARCHES as part of whats called cavovarus (cay-voh-vayr-us) foot deformity. A cavovarus foot has a high arch, is twisted downward towards the front, and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot.

• #6 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UK

  https://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/

  Muscle weakness in the hands can make it difficult to carry out fine motor skills like writing clearly and using buttons. The longest nerves are affected first. This means it usually takes several years before it can start to affect the hands. In some rare types of CMT, the hands may be affected before the feet. […] Sensory symptoms, such as numbness or tingling in the feet, are common and can occur in the hands too. This can sometimes feel like poor circulation, where the hands feel very cold. Numbness in the hands, along with muscle weakness, can make it difficult to carry out fine motor skills. […] As the condition progresses, there are two types of pain that are common for people with CMT. One is pain in the joints and muscles because of the strain that CMT puts on other parts of the body. The other is neuropathic pain caused by nerve damage, which can feel like burning, tingling, or sharp pain.

• #6

  https://www.nhs.uk/conditions/charcot-marie-tooth-disease/symptoms/

  As CMT progresses, the muscle weakness and lack of sensation gets worse and starts to affect your hands and arms more. […] Problems with mobility and walking tend to get worse with age. It’s uncommon to lose the ability to walk completely, but older people with CMT often need a walking aid to get around.

• #6 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  KNEECAP DISLOCATIONS CAN COMMONLY OCCUR IN CMT, especially in children. A condition called patella alta, or what is a kneecap (patella) that is located higher up the leg than it should be (alta), is experienced by many who have CMT. This is likely caused by a weakening of the leg muscles and likely contributes to the dislocations. […] CMT OFTEN CAUSES FINGER CONTRACTURES (clawed hands), toe contractures, tremor, absent or reduced reflexes, poor circulation (neuromuscular-induced venous insufficiency), scoliosis, kyphosis (kyphoscoliosis when scoliosis and kyphosis occur together), and the list goes on. […] LESS COMMON, BUT STILL QUITE TROUBLESOME, CMT can cause neurogenic bladder issues, neurogenic bowel issues, vision problems (due to optic atrophy and/or slowly reactive pupils), vestibular issues leading to worsened balance, speech/vocal issues, swallowing/choking issues, and breathing issues.

• #6 Charcot-Marie-Tooth Disease – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/charcot-marie-tooth-disease/

  Most people first notice CMT symptoms in their feet and legs. This is a slowly progressive disorder, meaning it gets worse gradually. Over time, symptoms may also affect the hands and arms. […] Weakness in the muscles of the foot, ankles, and lower leg can result in a foot drop, which is the inability to dorsiflex the foot (bend it upward toward the shin) and hold the foot horizontally (parallel to the floor) when walking. This results in an abnormal „steppage” gait. […] Weakened muscles lead to muscle imbalance, and bones may not be supported in a normal position. In the foot, muscle imbalance can lead to bone deformities like hammertoes and high arches. […] People with CMT often lose some sensation (feeling) in their feet and hands. The lack of feeling may affect a person’s ability to feel normal pain. As a result, minor injuries, such as a blister on the toe, may become infected without notice. […] Although Charcot-Marie-Tooth disease typically does not cause pain, it may lead to numbness or tingling. […] Charcot-Marie-Tooth disease progresses (gets worse) slowly over time. Symptoms may worsen even with proper treatment and the patient’s best efforts.

• #6 Charcot-Marie-Tooth Disease Type 1 Guide | CMT Research Foundation

  https://cmtrf.org/what-is-cmt-disease/types-of-cmt/cmt1/

  The first symptom of CMT1 is usually muscle weakness in the feet. This presents as hammertoes, pes cavus (high arch) and other foot deformities, which are caused by the small muscles in the feet deteriorating. […] Additionally, people with CMT1 often have a loss of sensation accompanying this weakness. Their symptoms affect both motor and sensory function because the myelin that is meant to insulate nerves is damaged, impacting communication with the musculature and the sensory organs in the skin. Charcot-Marie-Tooth Type 1 is a progressive disorder, meaning the symptoms will worsen over time, but this progression is usually slow. Eventually, the weakness and loss of sensation will work its way closer to the torso and begin affecting the arms and hands. As the disease worsens, people with CMT1 can expect a loss of coordination or balance due to a loss of a particular kind of sensory ability called proprioception. Proprioception is the ability to sense where your body (and limbs) are in space. Loss of proprioception causes uncoordinated movements and imbalance.

• #6 Charcot Marie Tooth Disease (CMT) | Resurgens Orthopaedics

  https://www.resurgens.com/education/charcot-marie-tooth-disease-cmt

  People with Charcot-Marie-Tooth disease must avoid periods of prolonged immobility, such as when recovering from a secondary injury, as this can worsen the symptoms. For some people, pain can be significant to severe and interfere with daily life activities. However, pain is not experienced by all people with CMT disease.

• #7 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  FOR REASONS UNKNOWN, some of the muscles that control the foot remain relatively strong in CMT while their opposing muscles become relatively weak. These unbalanced muscle forces exerted on the foot are strong enough to cause bones in the foot to change shape. The result is a painful, twisted, and crooked foot that poorly distributes weight, makes mobility difficult, causes frequent trips and falls, and causes frequent ankle sprains. Over time, these can lead to premature ankle, knee, hip, and lower back wear/degenerative changes. […] SOMETIMES, CMT CAUSES FLAT FEET, or what is pes planus. A pes planus foot deformity in CMT is also caused by an unbalanced weakening of the muscles that control the foot. The unbalanced weakening occurs in muscles opposite to those that cause cavovarus deformity. A pes planus deformity causes the foot to turn inward rather than outward. Again, because it is the opposite to cavovarus. Pes planus deformity is as painful and problematic as cavovarus foot deformity.

• #7 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  CMT OFTEN CAUSES NUMBNESS, especially in the points farthest away from the spinal cord (distal), such as the hands and feet. Hand numbness can be random and episodic. Its not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks or even months. […] CMT OFTEN CAUSES SEVERE CHRONIC PAIN. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, its muscle and joint pain (musculoskeletal). For many who have CMT, it can be both. […] CMT OFTEN CAUSES A GREAT DEAL OF FATIGUE. Its well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. […] CMT OFTEN CAUSES HIGH ARCHES as part of whats called cavovarus (cay-voh-vayr-us) foot deformity. A cavovarus foot has a high arch, is twisted downward towards the front, and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot.

• #7 Charcot-Marie-Tooth disease (CMT) | nidirect

  https://www.nidirect.gov.uk/conditions/charcot-marie-tooth-disease-cmt

  As CMT progresses, the muscle weakness and lack of sensation worsens. It starts to affect your hands and arms more. This can lead to problems with both using your hands and hand strength, making tasks such as doing up the buttons of a shirt very difficult. […] Problems with walking and posture can put extra strain on your body, which often leads to muscle and joint pain. Less commonly, damaged nerves may also cause pain, known as neuropathic pain. […] Problems with mobility and walking tend to get worse with age. It’s uncommon to lose the ability to walk completely. But older people with CMT often need a walking aid to get around.

• #7 Symptoms of Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth NewsEnvelope icon

  https://charcot-marie-toothnews.com/symptoms-of-charcot-marie-tooth-disease/

  Changes in the ability of muscles to contract may lead to tripping and frequent falls. […] CMT can damage the cochlear nerve, the sensory nerve responsible for transmitting the electrical signals that enable hearing. […] As such, a patient’s ability to hear is reduced, which usually occurs in both ears. Hearing loss can range from mild to severe in CMT, and patients usually have difficulty hearing mid- and high-frequency sounds. […] This symptom may be present from infancy and worsen with disease progression. […] The phrenic nerve, which controls the diaphragm muscle, can be affected by CMT. Breathing problems in CMT are usually not severe, but they can be life-threatening in rare cases. […] Fatigue is a common symptom in CMT. It results from the greater energy it takes to compensate for weakened muscles in walking, standing, and doing everyday activities.

• #7 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  Charcot-Marie-Tooth disease (CMT) is the most common form of inherited peripheral neuropathy, with a prevalence of one in 2,500 people. CMT patients usually present muscle atrophy, sensory loss, foot deformities, and areflexia. However, CMT is a clinically and genetically heterogeneous disease, and some subtypes reveal unusual clinical features, including pyramidal features, vocal cord paralysis, hearing loss, or optic atrophy. Furthermore, CMT is divided into three categories based on its pathology, namely demyelinating, axonal, and intermediate neuropathy. Intermediate CMT neuropathy was reported to be characterized by both demyelination and axonal degeneration in peripheral nerve biopsies. Demyelinating and axonal CMT neuropathy can be generally distinguished by assessing the median motor nerve conduction velocity (NCV), which is lower and higher than 38 m/sec, respectively. Intermediate neuropathy usually ranges from 30 to 40 m/sec. As more than 90 causative genes for CMT were found up to date, this disease is categorized into numerous subtypes.

• #7 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1A is characterized by a slow progression, insidious onset, variable severity, and genetic heterogeneity. The main symptoms comprise muscle weakness, muscle atrophy, walking difficulties, and foot drop in distal limbs. Furthermore, muscle cramps, distal sensory impairment, hyporeflexia, and areflexia may also appear. Pes cavus, hammer toes, foot deformities, and claw hand deformities may be observed in the lower and upper extremities, respectively, kyphoscoliosis of the spine may also be seen. Moreover, the motor NCV is reduced in CMT1A and hypertrophic nerve changes may occur. […] CMT2 presents normal-to-slightly slower motor NCV, it was associated with a smaller activity potential and damages to the axons in neurolytic studies. The age of onset greatly varies, even within families, ranging from childhood to older adulthood (60 years of age). The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear.

• #8 Charcot-Marie-Tooth Disease – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/charcot-marie-tooth-disease/

  Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves the nerves that carry messages between the brain and muscles throughout the body. […] All types of Charcot-Marie-Tooth disease (CMT) cause degeneration (damage that gets worse over time) of the peripheral nerves, leading to muscle weakness and some loss of sensation in the arms, legs, hands, and feet. These symptoms often first appear during adolescence or early adulthood, but they can develop later in life, as well. […] Symptoms vary greatly among people with CMT, and usually begin in the feet and legs. As CMT progresses (gets worse), it can cause deformities in the bones of the feet, such as hammertoes and high arches. Without treatment, walking may become difficult. […] Symptoms vary depending on both the type of CMT a person has and the severity of their disease. In general, symptoms fall into three major categories: Muscle weakness, Bone deformity, Loss of sensation.

• #8 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  CMT OFTEN CAUSES NUMBNESS, especially in the points farthest away from the spinal cord (distal), such as the hands and feet. Hand numbness can be random and episodic. Its not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks or even months. […] CMT OFTEN CAUSES SEVERE CHRONIC PAIN. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, its muscle and joint pain (musculoskeletal). For many who have CMT, it can be both. […] CMT OFTEN CAUSES A GREAT DEAL OF FATIGUE. Its well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. […] CMT OFTEN CAUSES HIGH ARCHES as part of whats called cavovarus (cay-voh-vayr-us) foot deformity. A cavovarus foot has a high arch, is twisted downward towards the front, and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot.

• #8 What is Charcot Marie Tooth (CMT) Disease? | CMT Research Foundation

  https://cmtrf.org/what-is-cmt-disease/

  The symptoms of Charcot-Marie-Tooth disease and the age when they begin depend on the type of CMT. Some people with CMT start experiencing symptoms as teens or young adults. Other types of CMT can cause symptoms in babies. […] CMT symptoms found in teens or young adults: Trouble gripping and holding things (sensory loss), Tripping and struggling with balance, Shuffling, marching or dragging the feet when walking, Cold hands and feet, Numbness or tingling in the feet or hands, Curled toes (also called hammertoes), High arches in the feet. […] CMT symptoms found in babies: Trouble grasping and holding things, Taking longer to hold their head up, sit, crawl, stand and walk, Falling more than babies their same age. […] Less common symptoms of CMT can include sleep apnea, swallowing problems or choking, hearing loss, scoliosis, and breathing problems (from respiratory muscle weakness).

• #8 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1 is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow NCV. The age of onset of CMT1 greatly varies, ranging from infancy to the fourth or subsequent decades of life. Although patients usually have their first symptoms between their first and the second decade of life, several other clinical manifestations may appear later. Furthermore, its clinical severity is also variable, fluctuating between an extremely mild form of the disease, which remains unrecognized, to a considerably serious form, which is associated with weakness and disability. Affected individuals typically develop distal weakness, symmetric atrophy of muscles (mainly peroneal), and reduced-to-absent tendon reflexes. Additionally, sensory deficits of position, vibration, and pain/temperature commonly occur in patients’ feet and, at a later stage, hands. Finally, pes cavus with hammer toes is frequently present since childhood, and variable scoliosis may develop during adolescence.

• #8 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT2A1 progresses slowly and is genetically heterogeneous. The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear. […] CMT2A2A greatly varies in severity, with the identification of family with a fatal subacute encephalopathy. The main symptoms include distal limb muscle weakness, muscle atrophy, steppage gait, foot drop, distal sensory impairment, loss of pain and temperature sensation, and less severe loss of vibration and position sensation. Additionally, while hyporeflexia and areflexia are common, pyramidal signs, increased muscle tone, extensor plantar responses or hyperreflexia are rarely observed.

• #9 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  FOR REASONS UNKNOWN, some of the muscles that control the foot remain relatively strong in CMT while their opposing muscles become relatively weak. These unbalanced muscle forces exerted on the foot are strong enough to cause bones in the foot to change shape. The result is a painful, twisted, and crooked foot that poorly distributes weight, makes mobility difficult, causes frequent trips and falls, and causes frequent ankle sprains. Over time, these can lead to premature ankle, knee, hip, and lower back wear/degenerative changes. […] SOMETIMES, CMT CAUSES FLAT FEET, or what is pes planus. A pes planus foot deformity in CMT is also caused by an unbalanced weakening of the muscles that control the foot. The unbalanced weakening occurs in muscles opposite to those that cause cavovarus deformity. A pes planus deformity causes the foot to turn inward rather than outward. Again, because it is the opposite to cavovarus. Pes planus deformity is as painful and problematic as cavovarus foot deformity.

• #9 Charcot–Marie–Tooth disease – Wikipedia

  https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease

  Over time, individuals may develop distinctive foot deformities, such as high arches (known as pes cavus) and curled toes (hammertoes), due to muscle imbalance. […] As the disease progresses, the weakness often spreads to the hands and forearms, making tasks that require fine motor skills like buttoning a shirt or writing more difficult. […] In addition to motor symptoms, many people with CMT also experience a gradual loss of sensation in the feet, legs, hands, and arms. […] This sensory loss may affect the ability to feel pain, temperature, or touch, and can lead to problems with balance, especially in low-light conditions. […] Symptoms and progression of the disease can vary. […] Pain is a common symptom experienced by individuals with Charcot-Marie-Tooth disease, often resulting from postural abnormalities, skeletal deformities, muscle fatigue, and cramping.

• #9 Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

  The sensory symptoms of Charcot-Marie-Tooth disease include: Numbness or tingling. Inability to feel heat or pain sensations in your lower legs, feet and hands. Creeping sensations in your legs. Chronic pain. Loss or decrease in other senses, especially vision and hearing (these are less common and usually only happen with specific subtypes of CMT). […] In general, CMT isnt a dangerous condition, except with specific subtypes of this disease that are very severe. Most people with CMT will develop problems with moving or using certain senses, but these rarely affect how long you live. […] With the severe forms of this condition, the most dangerous issue is weakness in the muscles that control breathing and swallowing. These can lead to respiratory failure, pneumonia and other issues, which can become deadly. These are more likely when you develop CMT symptoms earlier in life, especially during childhood. […] CMT is a permanent, lifelong condition. You have it when youre born, but most people dont show its symptoms until theyre adults. Theres also no way to cure it, and it doesnt go away on its own.

• #9 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT1A is characterized by a slow progression, insidious onset, variable severity, and genetic heterogeneity. The main symptoms comprise muscle weakness, muscle atrophy, walking difficulties, and foot drop in distal limbs. Furthermore, muscle cramps, distal sensory impairment, hyporeflexia, and areflexia may also appear. Pes cavus, hammer toes, foot deformities, and claw hand deformities may be observed in the lower and upper extremities, respectively, kyphoscoliosis of the spine may also be seen. Moreover, the motor NCV is reduced in CMT1A and hypertrophic nerve changes may occur. […] CMT2 presents normal-to-slightly slower motor NCV, it was associated with a smaller activity potential and damages to the axons in neurolytic studies. The age of onset greatly varies, even within families, ranging from childhood to older adulthood (60 years of age). The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear.

• #9 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT2A1 progresses slowly and is genetically heterogeneous. The main signs of such a disease include distal limb muscle weakness, muscle atrophy, steppage gait, and foot drop. Additionally, pes cavus, hammer toes, and foot deformities appear in patients’ lower limbs. Furthermore, distal sensory impairment, hyporeflexia, and areflexia also appear. […] CMT2A2A greatly varies in severity, with the identification of family with a fatal subacute encephalopathy. The main symptoms include distal limb muscle weakness, muscle atrophy, steppage gait, foot drop, distal sensory impairment, loss of pain and temperature sensation, and less severe loss of vibration and position sensation. Additionally, while hyporeflexia and areflexia are common, pyramidal signs, increased muscle tone, extensor plantar responses or hyperreflexia are rarely observed.

• #10 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UK

  https://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/

  Muscle weakness in the hands can make it difficult to carry out fine motor skills like writing clearly and using buttons. The longest nerves are affected first. This means it usually takes several years before it can start to affect the hands. In some rare types of CMT, the hands may be affected before the feet. […] Sensory symptoms, such as numbness or tingling in the feet, are common and can occur in the hands too. This can sometimes feel like poor circulation, where the hands feel very cold. Numbness in the hands, along with muscle weakness, can make it difficult to carry out fine motor skills. […] As the condition progresses, there are two types of pain that are common for people with CMT. One is pain in the joints and muscles because of the strain that CMT puts on other parts of the body. The other is neuropathic pain caused by nerve damage, which can feel like burning, tingling, or sharp pain.

• #10 Understanding CMT: Symptoms & Management

  https://www.cmtausa.org/understanding-cmt/what-is-cmt/

  KNEECAP DISLOCATIONS CAN COMMONLY OCCUR IN CMT, especially in children. A condition called patella alta, or what is a kneecap (patella) that is located higher up the leg than it should be (alta), is experienced by many who have CMT. This is likely caused by a weakening of the leg muscles and likely contributes to the dislocations. […] CMT OFTEN CAUSES FINGER CONTRACTURES (clawed hands), toe contractures, tremor, absent or reduced reflexes, poor circulation (neuromuscular-induced venous insufficiency), scoliosis, kyphosis (kyphoscoliosis when scoliosis and kyphosis occur together), and the list goes on. […] LESS COMMON, BUT STILL QUITE TROUBLESOME, CMT can cause neurogenic bladder issues, neurogenic bowel issues, vision problems (due to optic atrophy and/or slowly reactive pupils), vestibular issues leading to worsened balance, speech/vocal issues, swallowing/choking issues, and breathing issues.

• #10 Charcot-Marie-Tooth disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/

  Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. […] Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.

• #10 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT2B phenotypically overlaps with hereditary sensory and autonomic neuropathy type I (HSAN1). The main symptoms include muscle weakness of the distal limb, muscle atrophy, steppage gait, foot drop, distant sensory impairment, hyporeflexia, and areflexia. Furthermore, pes cavus, pes planus, hammer toes, foot deformities, and foot callus appear in the lower limbs. […] CMT3 is clinically and genetically heterogeneous. The main symptoms of this disease include distal sensory impairment, sensory ataxia, hyporeflexia, and areflexia during muscle development, as well as muscle atrophy and weakness of the distal limbs. […] CMT4 belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathies. These autosomal recessive forms are usually associated with very severe progression, onset at early infancy, delayed motor milestones, and complex phenotypic manifestations.

• #11 Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

  CMT symptoms usually start in your early teenage years, but can start earlier during childhood or later during middle age. Issues usually appear and develop slowly, getting progressively worse over time. […] The symptoms of Charcot-Marie-Tooth disease usually affect movement and your senses, especially touch, vision and hearing. Charcot-Marie-Tooth disease can affect your body in several ways, including problems with muscle control and movement or how your senses work. […] CMT has two main types of symptoms depending on which types of nerve signals the condition affects. The affected signals are either motor or sensory. […] The motor symptoms of CMT affect your muscles. These include: Muscle weakness. Paralysis. Loss of muscle mass (muscle atrophy). Decreased or no reflexes. Hammertoes. Foot drop (a very high foot arch). Trips and falls because of gait disorders and changes in how the muscles in your legs and feet work. Repeated ankle sprains. Breathing problems (this usually only happens in severe cases).

• #11 Charcot-Marie-Tooth disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/

  Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.

• #11 Charcot–Marie–Tooth disease – Wikipedia

  https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease

  Although the disease is typically slowly progressive and not life-threatening, the degree of disability can vary. […] The variation in symptoms and severity is influenced by the specific genetic mutation causing the condition. […] Neuropathic pain is a recognized symptom of Charcot-Marie-Tooth disease, although its presence and severity can vary greatly among individuals, and not all patients experience pain. […] GARS1-associated axonal neuropathy is a progressive condition that deteriorates over time.

• #11 Charcot-Marie-Tooth disease (CMT) in children – Children’s Health Neurology

  https://www.childrens.com/specialties-services/conditions/charcot-marie-tooth-disease

  Signs of Type 2 CMT tend to appear during the teenage years but can also be found in younger children. The symptoms are similar to Type 1 CMT. Type 2 CMT may also affect a child’s ability to speak, swallow and breathe. […] CMT3, or Type 3, is apparent at birth. This rare form can cause severe symptoms that gradually get worse. A child with CMT3 may develop scoliosis (curved spine) and may not be able to walk. […] Other symptoms of Type 3 CMT include: Difficulty breathing and swallowing, Low muscle tone (hypotonia). […] Type 4 CMT is very rare. The disease may be evident at birth or symptoms may develop during childhood. Children with this type of CMT gradually lose muscle strength. They may be unable to walk by the time they reach their teenage years. These children are also at risk for hearing loss. […] Children who have Type 1 CMT (the most common type) often lead full, active lives. The disease doesn’t affect how long a child will live. […] Other types of CMT can cause more serious problems. These children may need to use a wheelchair or other mobility devices.

• #12 Charcot-Marie-Tooth disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/

  Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.

• #12 Symptoms of Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth NewsEnvelope icon

  https://charcot-marie-toothnews.com/symptoms-of-charcot-marie-tooth-disease/

  Changes in the ability of muscles to contract may lead to tripping and frequent falls. […] CMT can damage the cochlear nerve, the sensory nerve responsible for transmitting the electrical signals that enable hearing. […] As such, a patient’s ability to hear is reduced, which usually occurs in both ears. Hearing loss can range from mild to severe in CMT, and patients usually have difficulty hearing mid- and high-frequency sounds. […] This symptom may be present from infancy and worsen with disease progression. […] The phrenic nerve, which controls the diaphragm muscle, can be affected by CMT. Breathing problems in CMT are usually not severe, but they can be life-threatening in rare cases. […] Fatigue is a common symptom in CMT. It results from the greater energy it takes to compensate for weakened muscles in walking, standing, and doing everyday activities.

• #12 Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/charcot-marie-tooth

  CMT causes muscle weakness and reduction in size (atrophy), and some loss of sensation in the lower legs and feet. Sometimes the hands, wrists, and forearms are affected as well. CMT also often causes contractures (stiffened joints due to abnormal tightening of muscles and associated tissues), and sometimes, curvature of the spine (scoliosis or kyphosis). […] Depending on the type of CMT, onset can be from birth to adulthood, and progression is typically slow. CMT usually isn’t life-threatening, and it rarely affects the brain.

• #12 Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

  https://www.pfmjournal.org/journal/view.php?doi=10.23838/pfm.2018.00163

  CMT5 is characterized by distal limb muscle weakness and atrophy, walking difficulty, foot drop, frequent falls, and distal sensory impairment. […] CMT6 shares the phenotype with the CMT2A2 allelic disorder. Most patients become wheelchair-bound, given the muscle weakness and atrophy present in their distal limbs. Common symptoms include steppage gait, pes cavus, lumbar hyperlordosis, positive Romberg sign, proximal muscle weakness, distal sensory impairment of all modalities, hyporeflexia, and areflexia. […] X-linked CMT disease type 1 (CMTX1) is characterized by symptoms such as delayed motor development, transient and reversible neurologic deficits, paraparesis, monoparesis, numbness, motor aphasia, dysarthria, dysphagia, and tremor. […] Intermediate CMT (CMTDI) presents a rapid disease progression, which occurs between the age of 40 and 50 years. Features intermediate between demyelinating and axonal CMT are reported. The appearance of muscle weakness and atrophy in the distal limbs is observed, and the following symptoms are commonly found: pes cavus, muscles cramps, steppage gait, foot drop, hyporeflexia, areflexia, and distal sensory impairment.

• #13 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UK

  https://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/

  Muscle weakness in the hands can make it difficult to carry out fine motor skills like writing clearly and using buttons. The longest nerves are affected first. This means it usually takes several years before it can start to affect the hands. In some rare types of CMT, the hands may be affected before the feet. […] Sensory symptoms, such as numbness or tingling in the feet, are common and can occur in the hands too. This can sometimes feel like poor circulation, where the hands feel very cold. Numbness in the hands, along with muscle weakness, can make it difficult to carry out fine motor skills. […] As the condition progresses, there are two types of pain that are common for people with CMT. One is pain in the joints and muscles because of the strain that CMT puts on other parts of the body. The other is neuropathic pain caused by nerve damage, which can feel like burning, tingling, or sharp pain.

• #13 Charcot-Marie-Tooth disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/

  Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. […] Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.

• #13 Charcot-Marie-Tooth Disease: Types, Symptoms, and More

  https://resources.healthgrades.com/right-care/brain-and-nerves/charcot-marie-tooth

  Symptoms of CMTX types are the same as symptoms of CMT1 and CMT2. They may present differently in females and males (assigned at birth). Females with CMTX1 tend to have milder symptoms than males. In some cases females with CMTX1 may not show any symptoms at all. […] Charcot-Marie-Tooth disease affects the sensory nerves and motor nerves in the hands, arms, feet, and legs. It is a degenerative condition, meaning that symptoms gradually worsen over time. […] Early symptoms typically include weakness or paralysis of the muscles in the feet and lower legs, foot drop, high-stepped gait that can cause trips or falls, problems with balance, high arches, curled toes or hammertoes, and loss of muscle in the lower legs, resulting in an “inverted champagne bottle” shape. […] As the condition progresses, symptoms can include hand weakness, atrophy or muscle loss in the hands, reduced fine motor ability, reduced ability to detect hot, cold, and touch, decreased proprioception, scoliosis or curvature of the spine, hip displacement, muscle contractures, and mild to severe nerve pain. […] Some people may also experience tremors, vision problems, hearing problems, and breathing difficulties, in rare cases. […] Early diagnosis and treatment can help to reduce or control degenerative muscle loss, nerve damage, and related complications.

• #14 Charcot-Marie-Tooth disease – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/diagnosis-treatment/drc-20350522

  Signs of muscle weakness in your arms, legs, hands and feet […] Decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance […] Reduced reflexes […] Sensory loss in your feet and hands […] Foot deformities, such as high arches or hammertoes […] There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage […] If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation […] Muscle weakness associated with Charcot-Marie-Tooth disease may cause you to be unsteady on your feet, resulting in falls and serious injury.

• #15 Charcot-Marie-Tooth Disease – CMT is the Biggest Disease No one Has heard of, Until Now

  https://www.hnf-cure.org/cmt/what-is-cmt/

  CMT usually doesn’t affect life expectancy, however there are some types that are fatal and patients’ life span may be shortened due to respiratory muscle weakness, inactivity, depression and comorbidity. […] Over time, CMT muscles in the feet, legs, and hands lose strength. […] Often, the muscle loss happens unevenly, which causes foot and hand deformities, muscles wasting and atrophy leading to mobility issues. It can also have serious impacts on vision, hearing, breathing, speech and swallowing. Some patients experience hip dysplasia, scoliosis, and blindness.

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