Materiały źródłowe

• #1 Congenital Myasthenic Syndromes | Myasthenia Gravis Foundation of America

  https://myasthenia.org/understanding-mg/learn-more-about-mg-treatments/mg-brochures/congenital-myasthenic-syndromes/

  Congenital myasthenic syndromes (CMS) is the term used for a group of uncommon hereditary disorders of the neuromuscular junction as distinguished from autoimmune myasthenia gravis (MG). There are several different subtypes of CMS, each the result of a specific genetic mutation. The major differences between these syndromes and the more common autoimmune MG include: 1) CMS, as the name implies, usually manifest early in life, often in infancy with variable degrees of fluctuating weakness. 2) CMS is not associated with antibodies against any one of the components of the neuromuscular junction. 3) All of the CMS disorders result from mutations that alter one of the components of the neuromuscular junction. Patients with a CMS disorder tend to have lifelong or relatively stable symptoms of generalized fatigable weakness. These disorders are nonimmunologic in nature and patients do not have acetylcholine receptor antibodies; therefore, patients do not typically respond to immune therapy often used in patients with autoimmune MG (steroids, thymectomy, plasma exchange). Most patients with CMS develop symptoms in infancy or childhood with variable degrees of fluctuating weakness.

• #2 Myasthenic Syndrome in Children | IntechOpen

  https://www.intechopen.com/chapters/64857

  The myasthenic syndrome in children can be inherited or of acquired autoimmune origin. […] Fortunately, most of these cases are transient and complete recovery will take place after few weeks; however, good supportive measures are needed until recovery. […] An interesting group of childhood myasthenic syndromes is the congenital myasthenic syndrome; this is an uncommon, nonimmune-mediated heterogeneous syndrome with variable presentation, ranging from mild symptoms with little weakness to severe ones that may cause extreme weakness and respiratory failure. […] Many patients with congenital myasthenic syndrome are misdiagnosed with seronegative acquired myasthenia or congenital myopathy; however, advances in disease investigation are showing promise in early and precise diagnosis. […] Congenital myasthenic syndrome (CMS) is a genetic disease, inherited as autosomal recessive, nonimmunologic neuromuscular disorder, with a prevalence of about 1/200,000.

• #3 Mayo Clinic Health Library – Congenital myasthenic syndromes | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20209446

  Congenital myasthenic syndromes are usually identified at birth or early childhood and are lifelong conditions. […] There is no cure for congenital myasthenic syndromes. Medications are generally an effective treatment for muscle weakness symptoms. […] Rarely, some children with mild congenital myasthenic syndromes may not need treatment. […] Medications aren’t a cure, but they can improve muscle contraction and muscle strength in people with congenital myasthenic syndromes. […] Supportive treatments depend on the type and severity of the congenital myasthenic syndrome. Options may include: […] Regular follow-up appointments with a team of medical professionals provides ongoing care and may help prevent certain complications. […] Caring for a child or family member with a congenital myasthenic syndrome can be stressful and exhausting. […] Make an appointment with your doctor if you notice signs or symptoms common to congenital myasthenic syndromes.

• #4 Congenital myasthenic syndromes | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-myasthenic-syndromes?content_id=CON-20209446

  Congenital myasthenic syndromes are usually identified at birth or early childhood and are lifelong conditions. […] There is no cure for congenital myasthenic syndromes. Medications are generally an effective treatment for muscle weakness symptoms. […] Rarely, some children with mild congenital myasthenic syndromes may not need treatment. […] Medications aren’t a cure, but they can improve muscle contraction and muscle strength in people with congenital myasthenic syndromes. […] Supportive treatments depend on the type and severity of the congenital myasthenic syndrome. Options may include: […] Regular follow-up appointments with a team of medical professionals provides ongoing care and may help prevent certain complications. […] Caring for a child or family member with a congenital myasthenic syndrome can be stressful and exhausting.

• #5 Congenital Myasthenic Syndrome (CMS): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/congenital-myasthenic-syndrome

  Congenital myasthenic syndrome is a group of conditions where physical activity leads to muscle weakness. Treatment is available, but theres no cure for this genetic condition. […] When the activity stops, youll likely feel better. […] While physical activity can make your symptoms worse, your healthcare provider may suggest meeting with a physical therapist to help you find light activities and exercises that are safe for you to maintain good health and prevent muscle stiffness. […] You may need to use assistive devices like a wheelchair to navigate and prevent injury. […] Visit a healthcare provider if you or your child experience symptoms of congenital myasthenic syndrome when participating in physical activities, like muscle weakness. […] Your healthcare provider may recommend you use assistive devices like a wheelchair to prevent falls or injury.

• #6

  https://journals.lww.com/neur/fulltext/2000/48030/congenital_myasthenic_syndrome___report_of_four.13.aspx

  The term 'congenital myasthenic syndrome’ (CMS) encompasses a number of heterogeneous disorders characterised by myasthenic symptoms since birth, usually with positive family history and absence of acetyl choline receptor antibodies. […] CMS includes a heterogeneous group of disorders, characterized by dysfunction of NMJ transmission, which are present since birth and are genetically inherited. […] The response to anticholinesterase drugs varies among the various groups. In general, patients who suffer from AChR deficiency without a significantly prolonged open time of AChR channel, those who release insufficient number of ACh quanta but do not have AChE deficiency or those in whom quantal size is reduced, benefit from these drugs. […] It is important to note here that correct differentiation of CMS from autoimmune MG is also important therapeutically, as CMS patients do not respond to immunosuppressive therapy or plasma exchange and thymectomy.

• #7 Congenital myasthenic syndromes – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-myasthenic-syndrome/diagnosis-treatment/drc-20557730

  Our caring team of Mayo Clinic experts can help you with your congenital myasthenic syndromes-related health concerns […] Regular follow-up appointments with a team of medical professionals provides ongoing care and may help prevent certain complications. Your health care team can link you with appropriate support for home, school or work. […] Caring for a child or family member with a congenital myasthenic syndrome can be stressful and exhausting. You may not know what to expect, and you may worry about your ability to provide the care needed. […] Supportive treatments depend on the type and severity of the congenital myasthenic syndrome. Options may include: […] Medication treatment options may include: […] Medications aren’t a cure, but they can improve muscle contraction and muscle strength in people with congenital myasthenic syndromes. Which medications are effective depends on the type of affected gene. Medications that are effective for one type of syndrome may be ineffective for another type, so genetic testing is recommended before starting medications. […] Pregnancy can worsen symptoms of congenital myasthenic syndromes, so close monitoring during and after pregnancy is required.

• #8 Myasthenia Gravis: Nursing Diagnoses & Care Plans | NurseTogether

  https://www.nursetogether.com/myasthenia-gravis-nursing-diagnosis-care-plan/

  Myasthenia gravis is associated with muscle weakness and rapid fatigue in voluntary muscle groups. […] Since MG is a chronic and progressive medical condition, nurses support patients through ongoing assessments, treatment interventions, and providing accurate patient education about the disease, prognosis, treatments, and prevention of complications. […] Once the nurse identifies nursing diagnoses for myasthenia gravis, nursing care plans help prioritize assessments and interventions for both short and long-term goals of care. […] Myasthenia gravis is associated with muscle weakness usually affecting the muscles that control the eyes, throat, mouth, and limbs that worsen with activity. Weakness in the upper airway muscles can result in upper airway obstruction and respiratory failure. […] Dysphagia or swallowing difficulties are common in patients diagnosed with MG, making the risk for aspiration high. Silent aspiration can also occur in MG due to weak oropharyngeal muscle contractions, resulting in myasthenic crisis and aspiration pneumonia.

• #9 Congenital Myasthenic Syndromes – EyeWiki

  https://eyewiki.org/Congenital_Myasthenic_Syndromes

  Different subtypes of CMS are likely to have different response to medications, due to the underlying pathology of the disorder. The most common medications taken for CMS are acetylcholinesterase inhibitors, and 3,4-diaminopyridine (3,4-DAP), a potassium channel blocker, is the most common alternative or added pharmacologic treatment. Most patients have a partial beneficial response to one or both medications. However, acetylcholinesterase inhibitors tend to be ineffective in patients with CMS mutations in COLQ, LAMB2, DOK7, MUSK, or LRP4. […] Patients with CMS are likely to require regular lifelong follow up to monitor for extent and progression of symptoms as well as efficacy of therapy. Muscle strength and respiratory function should be routinely assessed. […] Stressors, such as fever, infection, or strong emotions, may exacerbate weakness and even provoke respiratory insufficiency. Patients with mutations most associated with these risks require prophylaxis with anticholinesterase medication. […] The prognosis is highly variable among CMS subtypes. Severity can range from mild weakness to being wheelchair-bound and requiring ventilatory support. In some patients, CMS symptoms can improve with age.

• #10 Congenital myasthenic syndrome | PPT

  https://www.slideshare.net/slideshow/congenital-myasthenic-syndrome-184070693/184070693

  Congenital myasthenic syndrome (CMS) is a rare heterogeneous group of genetic disorders that affect neuromuscular transmission. CMS can present at birth or in early infancy with symptoms like ptosis, external ophthalmoplegia, proximal limb weakness, and respiratory difficulties. Diagnosis involves neurophysiology testing showing a decremental response on repetitive nerve stimulation and increased jitter on single fiber EMG. Treatment involves cholinesterase inhibitors, potassium channel blockers, beta-2 agonists, or open channel blockers depending on the CMS subtype. Supportive care like respiratory […] Most patients with CMS present at birth or early infancy with exception of some subtypes. […] Clinical features 1) Choline acetyl transferase (ChAT) deficiency:- Manifest during infancy and early childhood with some patient apneic and hypotonic at birth. Sudden episode of apnea provoked by stress or without apparent cause. Some patient develop ventilator failure after acute attack and required ventilator support.

• #10 Congenital myasthenic syndrome | PPT

  https://www.slideshare.net/slideshow/congenital-myasthenic-syndrome-184070693/184070693

  Clinical features 1) primary AChR deficiency:- Mostly manifest in infancy with feeding problem and ptosis. Nearly all patient have opthalmoparesis and moderate to severe limb weakness. Severely affected patient may required respiratory support since infancy. […] Treatment Cholinesterase inhibitors:- Prolong lifetime of Acetycholine at the end plate. Pyridostigmine is commonly used Dose:- 7 mg/kg/day 10 mg/kg/day during crisis Can exacerbate weakness in some type of CMS. […] Treatment Other supportive treatment:- Respiratory care Ptosis surgery Anesthetic considerations Genetic counseling.

• #11 Congenital Myasthenic Syndromes | Myasthenia Gravis Foundation of America

  https://myasthenia.org/understanding-mg/learn-more-about-mg-treatments/mg-brochures/congenital-myasthenic-syndromes/

  A thorough diagnostic evaluation is worthwhile in patients with suspected congenital myasthenia because of the different types, and somewhat different treatment options. Patients with some subtypes may respond best to Mestinon(r) (pyridostigmine), while patients with other subtypes may respond best to other therapies (some types respond to ephedrine, some to 3, 4 DAP, quinidine or fluoxetine, as well as a variety of other drugs depending on the type of congenital myasthenia). […] Yes. It is advisable to be cautious when starting newly prescribed or even some over-the-counter medications.

• #12 Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

  https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.73

  Here, we describe the clinical and genetic characteristics of CMS patients diagnosed and treated in a single tertiary center. […] The response to treatment depends on the subtype of CMS. […] Traditionally, pyridostigmine, a competitive acetylcholinesterase inhibitor, was the mainstay of treatment for the neuromuscular junction disorders. […] Our study suggested the importance of molecular diagnosis of CMS to warrant appropriate treatment. […] The advent of NGS technologies opened a new era of molecular genetic diagnosis in various neuromuscular disorders.

• #13 Myasthenic Syndrome in Children | IntechOpen

  https://www.intechopen.com/chapters/64857

  Weakness along with fatigue is major presentation of CMS, and repetitive nerve stimulations have revealed decremental response in CMS patients in the absence of antibodies against muscle or neuromuscular junction. […] There are no constant clinical features for the diagnosis of CMS, and it is based on the age of presentation and type of neuromuscular defect; however, a nonspecific clue of the syndrome might be evident prenatally, which is reduced fetal movement. […] Neonates and infants with CMS experience generalized weakness, delayed motor milestone, and hypotonia with an evidence of wasted muscle bulk over time along with an evidence of exertional weakness and fluctuation of weakness, which gets worse with intercurrent infection. […] The apnea in this type of CMS decreases with advancing of age and will respond to anticholinesterase medication such as pyridostigmine prophylaxis. […] The patient does not respond or may get worse with anticholinesterase or other medication that is used for other types of CMS; however, some cases respond to ephedrine. […] Fortunately, the patient benefits from the use of cholinesterase inhibitors and 3,4-diaminopyridine or both.

• #14 General anesthesia for treating scoliosis with congenital myasthenia syndrome: a case report | JA Clinical Reports | Full Text

  https://jaclinicalreports.springeropen.com/articles/10.1186/s40981-022-00560-1

  Congenital myasthenia syndrome is a heterogeneous disease with impaired neuromuscular transmission. […] The postoperative management described herein can prevent respiratory complications in patients with congenital myasthenia syndrome. […] Postoperative respiratory management of patients with CMS is difficult. NPPV may be beneficial against respiratory dysfunction and the effect of residual anesthetic agents. […] Postoperative analgesia is very important for patients after scoliosis surgery. However, patients with CMS have compromised respiratory functions, and using opioids in them may pose a greater risk of adverse events. […] Therefore, reducing opioids by introducing multimodal analgesia (using opioids with non-steroidal anti-inflammatory drugs, acetaminophen, and regional analgesia) should be considered in patients with CMS, which has also been an important consideration in patients with MG. […] Additionally, rigorous monitoring in the ICU is needed until the patients fully recover to reach their preoperative respiratory conditions.

• #15 Congenital Myasthenic Syndromes (CMS) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/congenital-myasthenic-syndromes-cms/

  Healthcare professionals involved in the treatment of congenital myasthenic syndromes (CMS) may include general practitioners (GP), genetic counsellors or clinical geneticists, neurologists, ophthalmologists, occupational therapists, speech pathologists, physiotherapists, and exercise physiologists. The need for different healthcare professionals may change over a persons lifetime and extend beyond those listed here.

• #16 Myasthenia Gravis (MG) in Children

  https://www.nationwidechildrens.org/conditions/health-library/myasthenia-gravis-mg-in-children

  Congenital myasthenic syndromes are very rare forms of myasthenia that are inherited. Symptoms usually start at birth and are lifelong. […] The symptoms are usually noted at birth, but they may begin in childhood. They include overall weakness in the arms and legs. Babies may have delays in motor skills such as crawling, sitting, and walking. They may have trouble feeding or breathing. And they may have weak eyelids and poor head control. […] Treatment may include medicines, surgery, or blood product infusions. In severe cases, a child may need a breathing machine (ventilator) to help with breathing.

• #17

  https://journals.lww.com/neur/fulltext/2023/71010/anesthetic_management_of_a_child_with_congenital.28.aspx

  Congenital myasthenic syndrome (CMS) is a rare neuromuscular disorder caused due to genetic mutation in motor endplate proteins, manifesting as weakness of extraocular, facial, bulbar, respiratory, and limb muscles. […] Owing to its rarity, there is paucity of literature on its anesthetic management, which is mostly extrapolated from myasthenics and is not described previously for neurosurgery. Also, postoperative respiratory weakness is a significant concern in these patients. […] Severity of bulbar and respiratory weakness determines the perioperative need for mechanical ventilation. The role of preoperative plasmapheresis to improve severe weakness, as in MG, is not known here. […] Like MG, patients with CMS can be more susceptible to nondepolarizing muscle relaxants and resistant to depolarizing muscle relaxants, leading to prolonged postoperative mechanical ventilation. Hence, the muscle relaxants should be avoided or used cautiously with neuromuscular monitoring.

• #17

  https://journals.lww.com/neur/fulltext/2023/71010/anesthetic_management_of_a_child_with_congenital.28.aspx

  The safety profile for the use of propofol and remifentanil is described in myasthenics. […] Though inhalational anesthetic agents are known to inhibit neuromuscular transmission, they are found to be safely used along with nitrous oxide (N2O) without causing postoperative neuromuscular weakness in myasthenic children. […] Therefore, we discontinued sevoflurane after anesthesia induction and switched over to total IV anesthesia. […] Dexmedetomidine reduces anesthetic requirement, provides perioperative analgesia without neuromuscular weakness, and helps in early recovery, as reported in a myasthenic child. […] SBB is emerging as a day care surgical procedure of late. By minimizing opioid use, facilitating early recovery, providing adequate postoperative analgesia, and avoiding postoperative mechanical ventilation, our anesthesia technique facilitated early hospital discharge. Thus, it explored the possibility of SBB being conducted as a day care procedure among such selected subsets of CMS patients.

• #18 Congenital Myasthenia Service — Nuffield Department of Clinical Neurosciences

  https://www.ndcn.ox.ac.uk/research/congenital-myasthenia-service

  We provide a nationally commissioned specialised service for the diagnosis and management of children and adults in whom a congenital myasthenic syndrome is suspected. […] Congenital Myasthenic Syndromes (CMS) are a group of diverse inherited disorders that cause fatigueable muscle weakness due to impaired neuromuscular junction signal transmission. They arise from mutations in a number of different genes and choice of treatment depends upon the genetic subtype. […] The clinical service is based in Oxford with additional paediatric clinics at Great Ormond Street Hospital. Gene screening is performed at the clinical genetics laboratories, Oxford. Where novel mutations are identified Professor Beesons research laboratory has developed an increasing repertoire of functional analyses to confirm pathogenicity. The clinical service has close links with the research laboratory which has been responsible for the identification of novel CMS-associated genes.

• #19 Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

  https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.73

  Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center Journal of Genetic Medicine 2020;17:73-78 Published online December 31, 2020; https://doi.org/10.5734/JGM.2020.17.2.73 2020 Korean Society of Medical Genetics and Genomics. […] Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. […] This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. […] High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS. […] The importance of genetic diagnosis is particularly emphasized because the response to medical treatment varies depending on the molecular subtypes in CMS.

• #20 Diagnosing congenital myasthenic syndrome — Oxford Neuroscience

  https://www.neuroscience.ox.ac.uk/how-we-are-making-a-difference/diagnosing-congenital-myasthenic-syndrome

  Research at the at the Nuffield Department of Clinical Neurosciences has had a profound effect on the diagnosis and treatment of patients with Congenital Myasthenic Syndrome. […] Congenital myasthenic syndromes (CMS) are inherited diseases resulting in fatiguable muscle weakness. […] Work by Professor David Beeson and his team at the Nuffield Department of Clinical Neurosciences has had a profound effect on the diagnosis and treatment of patients with this form of the disease. […] Diagnostic testing for DOK7 mutations is now routine for patients with suspected CMS. […] A national outpatient service is provided at which patients are advised about the genetic basis of the condition and offered the most appropriate treatment. […] In a 2013 patient and family satisfaction survey, 89% reported they were completely satisfied with the service and 97% said that they felt involved in decisions about their care.

• #21 How Not to Miss Congenital Myasthenic Syndromes in Adultslogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/na47716/2018/10/24/how-not-miss-congenital-myasthenic-syndromes-adults

  Congenital myasthenic syndromes that were eventually diagnosed in adulthood had been missed for decades in 94% of patients; clues to diagnosis are presented here. […] Previous misdiagnosis was associated with inappropriate diagnostic measures (e.g., muscle biopsy) and treatment (e.g., immunotherapy, thymectomy). […] Maintaining an awareness of diagnostic clues and utilizing now readily available genetic testing is key to diagnosis in myasthenic patients without evident autoantibodies.

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