Spina bifida
Objawy

Spina bifida to wada wrodzona cewy nerwowej, charakteryzująca się niecałkowitym zamknięciem kręgosłupa i rdzenia kręgowego, zróżnicowana pod względem nasilenia objawów w zależności od typu i lokalizacji defektu. Spina bifida occulta, najłagodniejsza forma, zwykle przebiega bezobjawowo, natomiast meningocele i myelomeningocele, szczególnie ta ostatnia (występująca u około 1/1000 żywych urodzeń), wiążą się z poważnymi deficytami neurologicznymi, w tym porażeniem kończyn dolnych, zaburzeniami kontroli pęcherza i jelit, deformacjami ortopedycznymi oraz wodogłowiem (obserwowanym u 80-90% pacjentów z myelomeningocele). Malformacja Arnolda-Chiariego typu II jest częstym powikłaniem, prowadzącym do zaburzeń oddychania, połykaniem i koordynacji ruchowej. Zespół przykotwiczenia rdzenia kręgowego może powodować progresję deficytów neurologicznych, a zaburzenia czucia zwiększają ryzyko urazów i odleżyn.

Objawy spina bifida (rozszczepu kręgosłupa)

Spina bifida to wada wrodzona polegająca na niecałkowitym zamknięciu cewy nerwowej, co prowadzi do nieprawidłowego rozwoju kręgosłupa i rdzenia kręgowego. Objawy tej choroby mogą się znacznie różnić w zależności od typu, lokalizacji i rozmiaru wady. Zakres objawów klinicznych waha się od łagodnych, które mogą być niezauważalne, do ciężkich powodujących poważne niepełnosprawności neurologiczne.12

Spektrum objawów klinicznych

Nasilenie objawów klinicznych spina bifida zależy w dużej mierze od lokalizacji ubytku w kręgosłupie. Im wyżej w kręgosłupie znajduje się otwór, tym większe prawdopodobieństwo wystąpienia paraliżu kończyn dolnych i trudności z poruszaniem się w porównaniu z ubytkami w środkowej lub podstawnej części kręgosłupa, które mogą powodować jedynie problemy z kontrolowaniem czynności fizjologicznych.3

Objawy spina bifida można podzielić według poszczególnych typów tej wady:

Spina bifida occulta (ukryty rozszczep kręgosłupa)

Jest to najłagodniejsza i najczęstsza forma spina bifida, która zazwyczaj nie powoduje żadnych objawów neurologicznych:14

  • Zazwyczaj nie występują żadne objawy, ponieważ nerwy rdzeniowe nie są zajęte
  • Może być widoczny kępka włosów, niewielkie wgłębienie lub znamię na skórze nad małą szczeliną w kręgosłupie
  • Tylko około 1 na 1000 osób ze zdiagnozowaną spina bifida occulta doświadcza objawów, które pojawiają się zwykle gdy rdzeń kręgowy rozciąga się podczas wzrostu, szczególnie w okresie dojrzewania
  • Rzadko może powodować problemy z kontrolą funkcji pęcherza i jelit

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Meningocele

Jest to rzadsza forma spina bifida, w której opony rdzeniowe wypuklają się przez otwór w kręgosłupie, tworząc worek wypełniony płynem:67

  • Widoczny worek wypełniony płynem na plecach dziecka
  • Zazwyczaj nerwy rozwijają się prawidłowo, więc uszkodzenie nerwów jest rzadkie
  • Mogą wystąpić problemy z kontrolą pęcherza i jelit
  • Objawy są zwykle łagodniejsze niż w przypadku myelomeningocele

78

Myelomeningocele

Myelomeningocele to najcięższa i najpoważniejsza forma spina bifida, występująca w około 1 na 1000 żywych urodzeń. W tym przypadku kanał kręgowy pozostaje otwarty wzdłuż kilku kręgów w dolnej lub środkowej części pleców. Opony rdzeniowe i część rdzenia kręgowego lub nerwów wystają podczas urodzenia, tworząc worek. Tkanki i nerwy są zwykle odsłonięte, choć czasem skóra może pokrywać ten worek.126

Objawy myelomeningocele są liczne i poważne:

  • Osłabienie lub całkowite porażenie kończyn dolnych (nie mogą ruszać nogami)
  • Problemy z kontrolą pęcherza i jelit, nietrzymanie moczu i stolca
  • Zniekształcenia stóp (stopa końsko-szpotawa), nierówne biodra lub skrzywiony kręgosłup (skolioza)
  • Wodogłowie (nagromadzenie płynu mózgowo-rdzeniowego w mózgu) występujące u około 80-90% dzieci z tą formą wady
  • Brak czucia w kończynach dolnych i okolicy pośladków (dziecko nie odczuwa ciepła ani zimna, co może prowadzić do przypadkowych urazów)
  • Problemy z oddychaniem i połykaniem
  • Napadowe drgawki

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Zaburzenia neurologiczne i powikłania towarzyszące spina bifida

Wodogłowie

Wodogłowie (hydrocephalus) to częste powikłanie występujące u 70-90% dzieci z myelomeningocele. Jest to nagromadzenie nadmiernej ilości płynu mózgowo-rdzeniowego w mózgu, co może powodować zwiększone ciśnienie śródczaszkowe i uszkodzenie tkanki mózgowej.1213

Objawy wodogłowia obejmują:

  • Powiększenie obwodu głowy u niemowląt
  • Uwypuklenie ciemiączka (miękkiego miejsca na szczycie głowy)
  • Drażliwość, senność, wymioty i problemy z karmieniem
  • Ataki padaczkowe
  • Zaburzenia poznawcze i problemy z uczeniem się

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Malformacja Arnolda-Chiariego

Większość osób z cięższymi formami spina bifida ma malformację Arnolda-Chiariego typu II, w której część mózgu (tyłomózgowie) przemieszcza się w dół do kanału kręgowego w obrębie szyi. Ta przepuklina tyłomózgowia blokuje krążenie płynu mózgowo-rdzeniowego, powodując wodogłowie.1115

Objawy malformacji Arnolda-Chiariego mogą obejmować:

  • U niemowląt: stridor (świszczący oddech) i trudności z połykaniem
  • U starszych dzieci: osłabienie kończyn górnych i trudności z oddychaniem
  • Zaburzenia koordynacji ruchowej gałek ocznych
  • Bóle głowy, zwłaszcza podczas kaszlu lub kichania
  • Trudności z połykaniem

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Zespół przykotwiczenia rdzenia kręgowego

Zespół przykotwiczenia rdzenia kręgowego (tethered cord syndrome) to zaburzenie neurologiczne spowodowane przyczepami tkankowymi, które ograniczają ruch rdzenia kręgowego w kanale kręgowym. Te przytwierdzenia powodują nieprawidłowe rozciąganie rdzenia kręgowego, szczególnie w miarę wzrostu dziecka.15

Objawy przykotwiczenia rdzenia kręgowego mogą obejmować:

  • Osłabienie kończyn dolnych lub pogorszenie chodu
  • Bóle pleców lub nóg
  • Narastanie zaburzeń w kontroli pęcherza i jelit
  • Pogorszenie funkcji neurologicznych
  • Szybko postępująca skolioza
  • Owrzodzenia skóry

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Wpływ na układ ruchu

Zaburzenia ruchowe

Większość dzieci z cięższymi postaciami spina bifida ma pewien stopień osłabienia lub porażenia kończyn dolnych. Nasilenie zaburzeń ruchowych zależy od poziomu uszkodzenia rdzenia kręgowego – im wyżej położona wada, tym większy zakres dysfunkcji.319

Zaburzenia motoryczne mogą obejmować:

  • Słabe mięśnie nóg, czasem do stopnia całkowitego porażenia
  • Brak kontroli nad dolnymi częściami ciała
  • Konieczność używania pomocy ortopedycznych do poruszania się (ortezy, kule)
  • W ciężkich przypadkach – konieczność korzystania z wózka inwalidzkiego

320

Zdolność do chodzenia zależy bezpośrednio od poziomu funkcjonalnego sensomotorycznego. Badania wykazały, że około 50-60% młodych dorosłych pacjentów porusza się na dystansach domowych lub środowiskowych, z czego około 20% używa pewnych urządzeń ortopedycznych lub pomocniczych.21

Deformacje ortopedyczne

Spina bifida często prowadzi do rozwoju różnych deformacji ortopedycznych, które mogą wymagać interwencji chirurgicznej:1814

  • Skolioza (boczne skrzywienie kręgosłupa)
  • Stopa końsko-szpotawa (clubfoot)
  • Zwichnięcie stawów biodrowych
  • Przykurcze stawowe
  • Nierówna długość kończyn
  • Zaburzenia wzrostu kości

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Zaburzenia kontroli zwieraczy

Neurogeniczny pęcherz moczowy

Większość osób z myelomeningocele i zamkniętymi wadami cewy nerwowej doświadcza dysfunkcji pęcherza moczowego z powodu uszkodzenia nerwów kontrolujących funkcje pęcherza. Problemy z pęcherzem dotyczą od 24 do 98% osób ze spina bifida.2223

Objawy neurogenicznego pęcherza moczowego mogą obejmować:

  • Nietrzymanie moczu
  • Trudności z opróżnianiem pęcherza moczowego
  • Zatrzymanie moczu
  • Częste nawracające zakażenia układu moczowego
  • Problemy z nerkami (wtórne do zaburzeń funkcji pęcherza)

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Dane dotyczące osiągnięcia kontroli nad pęcherzem są zmienne, co częściowo odzwierciedla niespójności w definicji społecznej kontynencji. Badania wskazują na 40-85% osiągnięcia kontroli nad pęcherzem.21

Neurogeniczne jelito

Większość osób z cięższymi formami spina bifida doświadcza problemów z kontrolą funkcji jelit z powodu uszkodzenia nerwów kontrolujących zwieracze i motorykę jelit.22

Objawy neurogenicznego jelita mogą obejmować:

  • Nietrzymanie stolca
  • Zaparcia
  • Biegunka
  • Trudności z opróżnianiem jelit

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Badania wskazują na 50-85% osiągnięcia kontroli nad jelitami. Prawdopodobieństwo społecznej kontynencji poprawia się, gdy szkolenie jest rozpoczęte przed 7 rokiem życia.21

Zaburzenia poznawcze i rozwojowe

Zaburzenia uczenia się

Chociaż większość osób z spina bifida ma normalną inteligencję, wielu pacjentów, szczególnie tych z wodogłowiem, może doświadczać trudności w uczeniu się i zaburzeń rozwojowych.1222

Zaburzenia poznawcze mogą obejmować problemy z:

  • Uwagą i koncentracją
  • Rozumieniem pojęć
  • Umiejętnościami motorycznymi i pamięcią
  • Organizacją i rozwiązywaniem problemów
  • Opóźnieniem w nabywaniu umiejętności samoobsługowych (zazwyczaj o 2-5 lat)

2220

Problemy sensoryczne

Osoby z spina bifida często doświadczają zmniejszonego lub całkowitego braku czucia w obszarach poniżej poziomu wady kręgosłupa:2627

  • Brak czucia w nogach, stopach lub okolicy pośladkowej
  • Niezdolność do odczuwania ciepła lub zimna, co może prowadzić do przypadkowych urazów
  • Większe ryzyko rozwoju odleżyn i owrzodzeń skóry
  • Zaburzenia czucia mogą prowadzić do problemów z poruszaniem się i koordynacją

2728

Progresja i zmiany w ciągu życia

Spina bifida nie jest stanem progresywnym i nie pogarsza się sama w sobie wraz z wiekiem pacjenta. Jednak problemy zdrowotne, z którymi zmaga się osoba z tą wadą, mają tendencję do zmieniania się wraz z wiekiem.15

Okres niemowlęcy i wczesne dzieciństwo

  • Bezpośrednio po urodzeniu – zamknięcie chirurgiczne otwartego rozszczepu (zazwyczaj w ciągu 24-72 godzin)
  • Leczenie wodogłowia (jeśli występuje) poprzez zastosowanie zastawki komorowo-otrzewnowej
  • Monitorowanie rozwoju neurologicznego i funkcji jelit/pęcherza
  • Wczesna interwencja fizjoterapeutyczna

2930

Dzieciństwo i dojrzewanie

  • Możliwe pogorszenie funkcji neurologicznych spowodowane przykotwiczeniem rdzenia kręgowego
  • Często rozwijające się deformacje ortopedyczne wymagające interwencji
  • Kontrola funkcji pęcherza i jelit staje się ważniejsza społecznie
  • Możliwe problemy z nauką i funkcjami poznawczymi
  • Okres dojrzewania może spowodować nasilenie objawów u pacjentów z łagodniejszymi formami spina bifida

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Dorosłość

  • Dorośli ze spina bifida mogą doświadczać szybszego spadku siły mięśniowej, elastyczności i wytrzymałości
  • Problemy z otyłością i niską gęstością mineralną kości
  • Problemy z płodnością (szczególnie u mężczyzn)
  • Bezdech senny
  • Depresja i inne problemy psychiczne
  • Kontynuacja problemów z pęcherzem i jelitami

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Badania dorosłych z myelomeningocele wykazały, że około 20-30% z nich znajduje zatrudnienie zarobkowe. Dzięki odpowiedniemu leczeniu i opiece, osoby z spina bifida mogą prowadzić aktywne życie, pracować, utrzymywać kontakty towarzyskie, zakładać rodziny i znajdować spełnienie w wielu dziedzinach.3215

Różnice w objawach w zależności od poziomu uszkodzenia

Nasilenie objawów spina bifida jest bezpośrednio związane z lokalizacją i rozmiarem wady w kręgosłupie. Ogólnie rzecz biorąc, im wyżej położony defekt, tym cięższe objawy i powikłania.6

Poziom uszkodzenia Typowe objawy i ograniczenia
Piersiowy (najwyższy) – Całkowite porażenie kończyn dolnych
– Brak kontroli zwieraczy
– Konieczność używania wózka inwalidzkiego
– Wyższe ryzyko deformacji kręgosłupa
– Większe prawdopodobieństwo wodogłowia
Lędźwiowy wysoki (L1-L3) – Znaczne osłabienie kończyn dolnych
– Częściowa kontrola bioder
– Możliwość chodzenia z pomocą ortez i kul
– Problemy z kontrolą pęcherza i jelit
– Zwiększone ryzyko przykurczów stawowych
Lędźwiowy niski (L4-L5) – Umiarkowane osłabienie stóp i kostek
– Lepsza kontrola bioder i kolan
– Możliwość chodzenia z minimalnymi pomocami
– Częściowe problemy z kontrolą zwieraczy
– Mniejsze ryzyko deformacji kręgosłupa
Krzyżowy (najniższy) – Minimalne osłabienie mięśni
– Dobra kontrola ruchowa kończyn dolnych
– Głównie problemy z kontrolą pęcherza i jelit
– Najmniejsze ryzyko deformacji ortopedycznych
– Najmniejsze ryzyko wodogłowia

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Podsumowanie najczęstszych objawów

Objawy spina bifida mogą obejmować szerokie spektrum zaburzeń, od łagodnych do ciężkich, w zależności od typu wady i poziomu uszkodzenia rdzenia kręgowego:13

  • Zaburzenia ruchowe: osłabienie lub porażenie kończyn dolnych, problemy z chodzeniem, konieczność używania pomocy ortopedycznych lub wózka inwalidzkiego
  • Problemy z kontrolą zwieraczy: nietrzymanie moczu i stolca, nawracające infekcje układu moczowego, problemy z nerkami
  • Wodogłowie: nagromadzenie płynu mózgowo-rdzeniowego w mózgu, może prowadzić do uszkodzenia mózgu, zaburzeń poznawczych i napadów drgawkowych
  • Malformacja Arnolda-Chiariego: przemieszczenie części mózgu do kanału kręgowego, powodujące problemy z oddychaniem, połykaniem i koordynacją
  • Zaburzenia czucia: brak lub zmniejszone czucie w nogach i stopach, zwiększone ryzyko odleżyn i urazów
  • Deformacje ortopedyczne: skolioza, stopa końsko-szpotawa, zwichnięcie stawów biodrowych
  • Zaburzenia poznawcze: trudności w uczeniu się, problemy z pamięcią, uwagą i rozwiązywaniem problemów
  • Przykotwiczenie rdzenia kręgowego: postępujące uszkodzenie rdzenia kręgowego prowadzące do nasilenia objawów neurologicznych

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Kluczowym czynnikiem prognostycznym dla pacjentów ze spina bifida jest wczesna i kompleksowa opieka medyczna. Dzięki postępom w medycynie wskaźnik przeżywalności osób z tą wadą wzrósł z mniej niż 50% do 85%. Większość zgonów po 5 roku życia przypisuje się napadom drgawkowym, zatorowości płucnej, wodogłowiu oraz ostrej niewydolności nerek/sepsy. Jednak znacząca chorobowość jest związana z tą wadą, jeśli pacjenci nie są odpowiednio leczeni.13

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  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Spina bifida – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860
    Spina bifida can range from being mild to causing serious disabilities. Symptoms depend on where on the spine the opening is located and how big it is. Symptoms also depend on whether the spinal cord and nerves are involved. […] Symptoms of spina bifida vary by type and from one person to another. […] Typically, there aren’t any symptoms of spina bifida occulta because the spinal nerves aren’t involved. But you can sometimes see symptoms on the newborn’s skin above the small gap in the spine. You might see a tuft of hair, a small dimple or a birthmark. Sometimes, these skin marks can be symptoms of a spinal cord issue that can be found with MRI or a spinal ultrasound in a newborn. […] This type may affect bladder and bowel function. […] In this most serious type of spina bifida, the spinal canal remains open along several vertebrae in the lower or middle back. The membranes and part of the spinal cord or nerves protrude at birth, forming a sac. Tissues and nerves usually are exposed, though sometimes skin covers the sac. Babies with this type of spina bifida may have trouble with bladder and bowel function. They also may experience weakness or lack of movement in the legs. Babies may have a buildup of fluid in the brain called hydrocephalus that can put pressure on brain tissue.
  • #2 Spina Bifida: Types, Tests, Treatment & Prevention
    https://my.clevelandclinic.org/health/diseases/8719-spina-bifida
    Spina bifida is caused by the incomplete development of the fetus spine during the first month of pregnancy. The condition varies in degree, from mild with no symptoms to severe with nerve damage. […] Most cases are so mild they have no symptoms and dont even need treatment (this occurs with spina bifida occulta, or hidden spina bifida). […] However, infants born with a more serious type of this disorder have open lesions on their spine where theres significant damage to nerves and the spinal cord. […] Myelomeningocele is the most severe form of spina bifida, occurring nearly once for every 1,000 live births. […] Infants born with myelomeningocele often have paralysis or weakness below the level of the spinal lesion. This affects the lower limbs along with problems with bladder and bowel function.
  • #3
    https://www.nhs.uk/conditions/spina-bifida/symptoms/
    Spina bifida can cause a wide range of symptoms, including problems with movement, bladder and bowel problems, and problems associated with hydrocephalus (excess fluid on the brain). […] The severity of the symptoms of spina bifida varies considerably, largely depending on the location of the gap in the spine. […] A gap higher up the spine is more likely to cause paralysis of the legs and mobility difficulties compared with gaps in the middle or at the base of the spine, which may only cause continence issues. […] Most children with spina bifida have some degree of weakness or paralysis in their lower limbs. […] They may need to use ankle supports or crutches to help them move around. […] If they have severe paralysis, they’ll need a wheelchair. […] Many people with spina bifida have problems storing and passing pee.
  • #4 Spina Bifida Occulta (Hidden Spina Bifida)
    https://my.clevelandclinic.org/health/diseases/22825-spina-bifida-occulta
    Spina bifida occulta is a mild form of spina bifida and rarely causes symptoms. […] About 1 in 1,000 people diagnosed with spina bifida occulta will experience symptoms as their spinal cord stretches. This could happen during adolescence after a growth spurt. You might experience symptoms that affect your muscle strength, bladder and bowel control. Treatment relieves these symptoms to reduce the amount of tension in your spinal cord. […] Symptoms of spina bifida occulta affect the function of specific parts of your body caused by damage to your nerves (neurologic deficit), which could include: Bowel and/or bladder problems (constipation, incontinence). […] Only 1 in 1,000 people diagnosed with spina bifida experience symptoms, which normally appear as their spinal cord stretches during adolescence after a growth spurt. Most children dont experience symptoms of spina bifida occulta. These symptoms could worsen during late adolescence and adulthood as their spinal cord stretches. […] If you have this condition, you might not know you have it, as symptoms are rare and mild. Every case of spina bifida occulta affects each person differently. Treatment can ease symptoms if you do experience discomfort caused by your spinal cord stretching.
  • #5 Spina Bifida Occulta Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City
    https://www.neurosurgery.columbia.edu/patient-care/conditions/spina-bifida-occulta
    Spina bifida occulta is a malformation of one or more vertebrae (bones of the spine). It is sometimes called closed spina bifida. In most cases, spina bifida occulta causes no problems. […] Fewer people are familiar with spina bifida occulta, or closed spina bifida. Closed spina bifida usually causes no symptoms at all. […] Occasionally, spina bifida occulta does cause symptoms. This usually occurs when the defect is more extensivefor example, if it involves more than one bone. […] Most cases of spina bifida occulta cause no symptoms and need no treatment. However, a small number of people with more extensive spina bifida occulta may have some of the following symptoms: Foot deformity, Leg weakness, numbness, or clumsiness, Bladder or bowel dysfunction, Hand weakness or numbness. […] These symptoms can be the result of a tethered cord. Left untreated, tethered cord can cause progressive damage to the spinal cord.
  • #6 Spina Bifida – AANS
    https://www.aans.org/patients/conditions-treatments/spina-bifida/
    The symptoms of spina bifida depend on exactly where and what extent the spinal cord and overlying structures have not developed correctly. There are three common subtypes: […] Occulta is often called hidden spina bifida, as the spinal cord and the nerves are usually normal and there is no opening on the back. […] In many cases, spina bifida occulta is so mild that there is no disturbance of spinal function at all. […] However, one in 1,000 individuals will have an occult structural finding that leads to neurological deficits or disabilities as bowel or bladder dysfunction, back pain, leg weakness or scoliosis. […] Meningocele occurs when the bones do not close around the spinal cord and the meninges are pushed out through the opening, causing a fluid-filled sac to form. […] Myelomeningocele accounts for about 75% of all spina bifida cases. This is the most severe form of the condition in which a portion of the spinal cord itself protrudes through the back.
  • #6 Spina Bifida – AANS
    https://www.aans.org/patients/conditions-treatments/spina-bifida/
    The extent of neurological disabilities is directly related to the location and severity of the spinal cord defect. If the bottom of the spinal cord is involved, there may be only bowel and bladder dysfunction, while the more severe cases can result in total paralysis of the legs with accompanying bowel and bladder dysfunction.
  • #7 Spina bifida | March of Dimes
    https://www.marchofdimes.org/find-support/topics/planning-baby/spina-bifida
    Meningocele. This is the rarest form of spina bifida. In this condition, the meninges push out through a gap in the spine. This creates a sac filled with fluid (called a meningocele) on the baby’s back. There’s usually little or no nerve damage, but some babies may have problems controlling their bladder and bowels. […] Myelomeningocele (also called open spina bifida). This is the most severe form of spina bifida. In this condition, part of the spinal cord pushes out with the meninges through the opening in the spine to form a sac on the baby’s back. The spinal cord and nearby nerves are damaged. This can cause paralysis (when you can’t feel or move one or more parts of your body) and life-threatening infections. […] Spina bifida can cause several health problems, including: Bowel problems. Bowel control can be a problem for people who have spina bifida.
  • #8 Spina Bifida and Myelomeningocele | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/spina-bifida-and-myelomeningocele
    The bladder and bowel. This condition may affect your childs ability to control their own pee and poop (stool). There are many urinary and bowel programs that can help your child have better control with these. […] Surgery is needed within 1 to 3 days after birth to close the opening. It cannot fix the damage that has already occurred to the nerves. It can help prevent further damage and reduce the chance of infection. […] Myeloschisis. This is a serious condition where the spinal cord and surrounding nerve tissue are exposed to amniotic fluid. Myeloschisis symptoms are like those of myelomeningocele. […] Meningocele. This is a less serious form of spina bifida. A sac of fluid comes through the babys back and can be seen outside as a lump or bulge along the spine. The spinal cord and nerves are not in the sac. This type of spina bifida can cause some problems.
  • #9 Spina Bifida: Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/neurology-and-neurosurgery/spina-bifida
    With this severe type of spina bifida, there is usually no skin covering the spinal cord or nervesleaving them exposed. Often, infants born myelomeningocele are unable to move their legs. Their feet may be abnormally shaped (club foot), or their hips and spine may be curved (scoliosis). […] Bowel and bladder dysfunction are common with meningocele spina bifida. […] The complications associated with spina bifida vary in severity according to the type of spina bifida a person is diagnosed with. The size and location of the spinal defect determine which part of the body is affected and to what degree. […] Most people with myelomeningocele and closed neural tube defects are affected by bowel and bladder dysfunction. People with this type of symptom may require assistance emptying their bladder or having regularly scheduled bowel movements.
  • #10 Spina Bifida: Causes, Symptoms, Diagnoses, and Treatment
    https://www.webmd.com/parenting/baby/spina-bifida
    With spina bifida occulta, the most obvious sign might be a tuft of hair or a birthmark at the site of the gap. […] In myelomeningocele, there’s usually no skin covering, and the spinal cord tissue is out in the open. Other associated symptoms can include: […] Weak leg muscles (in some cases, the infant can’t move them at all) […] Unusually shaped feet, uneven hips, or a curved spine (scoliosis) […] Hydrocephalus (a buildup of cerebrospinal fluid in brain cavities), a condition which in infants can cause an enlarged head, a bulging soft spot on top of the head, and effects on brain functioning […] Seizures […] Bowel or bladder problems. […] Children also might have trouble breathing, swallowing, or moving their upper arms. They also might be overweight. The symptoms depend a lot on where the problem is in the spine and which spinal nerves are involved. […] Some aspects might get worse. When nerve damage causes muscle weakness and a loss of feeling, people may lose some strength, sensation, and movement abilities as they age.
  • #11 Spina bifida causes, symptoms and treatment | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/spina-bifida
    Spina bifida symptoms can include bladder and bowel problems (incontinence), sexual dysfunction, weakness and loss of sensation below the defect, inability to move the lower legs (paralysis) and other cognitive impairments, and orthopedic malformations such as club feet or problems of the knees or hips. […] Generally, the higher the defect is located on the spine, the more severe the complications. […] In many cases, the brain develops an Arnold-Chiari II malformation, in which the hindbrain herniates or descends into the upper portion of the spinal canal in the neck. This herniation of the hindbrain blocks the circulation of cerebrospinal fluid, causing hydrocephalus (accumulation of fluid in the brain), which can injure the developing brain. […] Spina bifida can lead to a variety of social and emotional challenges and lifelong quality-of-life issues. […] Rarely children can pass away due to complications associated with Chiari II malformation or hydrocephalus. Many patients require shunts (85 percent), and 45 percent of shunts develop complications within one year.
  • #12
    https://www.nhs.uk/conditions/spina-bifida/symptoms/
    This is caused by the nerves that control the bladder not forming properly. […] Many people with spina bifida have limited or no control over their sphincter muscles and have bowel incontinence. […] Some babies with spina bifida have hydrocephalus (excess fluid on the brain), which can damage the brain and cause further problems. […] Many people with spina bifida and hydrocephalus will have normal intelligence, although some will have learning difficulties. […] Hydrocephalus can cause additional symptoms soon after birth, such as irritability, seizures, drowsiness, being sick and poor feeding.
  • #13 Spina Bifida – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK559265/
    The prognosis depends mainly on the presence of hydrocephalus, defect level, and severity of Chiari malformation. The „MOMS-Trial” showed that intra-uterine repair significantly reduced the need for shunting (almost 50%) and improved motor functioning. With medical advancement, the survival rate of spina bifida has increased from less than 50% to 85%. Of those with and without hydrocephalus, 56% and 88% survived beyond age 1, respectively. The rates of survival drop slightly as patients with hydrocephalus age, to about 50% by age 20. Most deaths beyond age 5 are attributed to seizures, pulmonary emboli, hydrocephalus, and acute renal failure/sepsis. However, significant morbidity is associated with NTDs if patients are not adequately managed.
  • #14 Spina bifida | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spina-bifida
    Most people with spina bifida have the Arnold Chiari malformation and about 80 per cent have abnormality of cerebrospinal fluid flow causing hydrocephalus (Latin for water on the brain). Hydrocephalus may be managed early with a shunt if adequate absorption of fluid does not occur. […] There is no cure for spina bifida. Treatment options include: Surgery may be used to close the lesion and reduce the risk of infection; Shunt insertion hydrocephalus is treated with the insertion of a tube, called a shunt, into the ventricles in the brain where the spinal fluid is produced, allowing excess cerebrospinal fluid to drain out of the brain via another tube into the abdomen or the heart; Orthopaedic surgery children with spina bifida usually undergo operations on their legs and feet to improve their mobility; Mobility aids walking aids or wheelchairs are commonly used; Diet and enemas are used to manage faecal incontinence; Bladder surgery can increase bladder size and tighten muscles; Self-catheterisation and continence pads may be required to manage urinary incontinence. Sometimes faecal or urinary bags are necessary; Regular monitoring of kidney, bladder, shunt and spine functions.
  • #14 Spina bifida | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spina-bifida
    Spina bifida refers to a range of birth defects that affect the spinal cord. […] In spina bifida, some vertebrae of the spine arent closed, leaving the spinal cord nerves exposed and damaged. […] The effects of spina bifida vary according to the type, location and severity of the condition. It can be located in the neck, chest or lumbar spinal region. The low thoracic upper lumbar lesions (in the mid-back area) generally produce a greater degree of paralysis and other debilitating complications. Problems associated with spina bifida include: reduced sensation in the lower body, legs and feet, leading to the possibility of burns and pressure sores; a degree of paralysis of the lower body and legs, causing walking difficulties or inability to walk; different degrees and types of urinary incontinence; different degrees and types of faecal bowel incontinence; some sexual dysfunction, particularly related to penile erection and ejaculation; deformities of the spine commonly scoliosis, where the spine bends into an S shape; cord tethering, where the spinal cord sticks to the area of the original lesion and becomes stretched; Arnold Chiari malformation an abnormality of the back of the brain and upper spinal cord which can cause disturbance of breathing, swallowing, eye movement and fluid flow leading to hydrocephalus; learning difficulties.
  • #15 The Stages of Life – Spina Bifida Association of Western Pennsylvania
    https://sbawp.org/the-stages-of-life/
    Individuals with spina bifida can lead very active lives, work, socialize, get married, have children and find fulfillment in a broad range of areas. […] Spina bifida is not a progressive condition and does not worsen as an individual ages. However, the health issues faced by a person with spina bifida tend to vary with age. […] Arnold-Chiari Malformation a congenital anomaly of the brain that occurs in almost all children born with both spina bifida and hydrocephalus, In infants, the most common symptoms are stridor and swallowing difficulties. In older children, upper limb weakness and breathing difficulties may occur. […] Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. […] Tethered spinal cord syndrome may go undiagnosed until adulthood, when sensory and motor problems and loss of bowel and bladder control emerge.
  • #16 Spina Bifida: Types, Causes, and Treatments | Children’s Hospital Los Angeles
    https://www.chla.org/spina-bifida
    Spina bifida can cause certain complications, such as: Chiari malformation type 2, in which part of the brain shifts into the spinal canal; Hydrocephalus, a buildup of fluid in the brain; Tethered cord syndrome, an abnormal attachment of the spinal cord to the wall of the spinal canal, preventing it from moving and growing with the child; Learning disabilities that affect attention, memory, problem-solving, and organization; Loss of sensation (feeling) in areas below the spinal opening, which may result in skin breakdown due to pressure, moisture or injury; Orthopedic (bone, joint, and muscle) conditions in the back and legs, such as scoliosis (curvature of the spine), muscle weakness, leg paralysis, coordination issues, and bone and joint issues; Club foot deformities; Bowel and bladder incontinence; Sleep apnea; Obesity.
  • #17 Types of Spina Bifida in Children | NYU Langone Health
    https://nyulangone.org/conditions/spina-bifida-in-children/types
    Myelomeningocele-related nerve damage commonly affects the bladder, bowel, and kidneys. Some children may be incontinent or have frequent urinary tract infections. […] In some children, after the myelomeningocele has been surgically closed, the spinal cord may become stuck, or tethered, to the lining of the spinal canal in the area of the surgical repair. As the spine lengthens, the spinal cord stretches out, damaging spinal cord tissue and restricting blood supply to the nerves. Over time, usually months or years, a tethered spinal cord can reduce sensitivity in the legs, bladder, or bowel. […] Increasing weakness, loss of sensation, new bladder problems, and new orthopedic problems such as scoliosis, in which the spine curves excessively, may suggest a tethered cord.
  • #18 What is Spina bifida | Children’s Health Queensland
    https://www.childrens.health.qld.gov.au/health-a-to-z/spina-bifida/what-is-spina-bifida
    Children with MMC are likely to also have hydrocephalus (build-up of fluid in and around brain). […] Spina bifida can cause a child to have poor or no sensation in some areas of the body, depending on the level of the spina bifida. […] The intellectual ability of children with spina bifida is usually within the normal range, but lower than that of same-aged peers. […] Most people with MMC will also have a Chiari (or Arnold-Chiari) malformation where (where part of the brain pushes down into the spinal canal. […] A tethered spinal cord is attached to the inside of the spinal canal and cannot move as freely. This can sometimes cause problems as a child grows and the spinal cord is stretched too much, causing loss of function, like the ability to walk or control the bladder, and in some cases, pain.
  • #18 What is Spina bifida | Children’s Health Queensland
    https://www.childrens.health.qld.gov.au/health-a-to-z/spina-bifida/what-is-spina-bifida
    Spina bifida can range from being mild to causing serious disabilities. Symptoms depend on where on the spine the opening is located and how big it is. […] The signs and symptoms of spina bifida vary depending on the type and severity of the condition your child has. For example, people with spina bifida occulta usually do not have any signs or symptoms. Common issues caused by spina bifida include: […] Many babies with spina bifida will have weak or paralysed muscles in their legs. As the child grows, some may walk by themselves, some may need walking aids or wheelchair. […] The nerves from the spinal cord that supply the bladder and bowel for both muscle control and sensation are located at the end of the spinal cord. Children with spina bifida can affect their continence (weeing and pooing).
  • #19 Spina Bifida: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/311113-overview
    Spina bifida is a spinal cord malformation that occurs in varying degrees of severity. […] Patients with myelomeningocele present with a spectrum of impairments, but the primary functional deficits are lower limb paralysis and sensory loss, bladder and bowel dysfunction, and cognitive dysfunction. […] In general, infants with spina bifida cystica present with the following: lethargy, poor feeding, irritability, stridor, ocular motor incoordination, and development delay. […] Older children may present with the following: cognitive or behavioral changes, decreased strength, increased spasticity, changes in bowel or bladder function, lower cranial nerve dysfunction, back pain, and worsening spinal or lower extremity orthopedic deformities. […] For the sake of general functional prognosis and anticipation of specific musculoskeletal complications, myelomeningocele patients frequently are classified as belonging to one of the following groups, based on the neurosegmental level of the lesion: Thoracic, High lumbar (L1-L3), Low lumbar (L4-L5), and Sacral.
  • #20 Myelomeningocele – Seattle Children’s
    https://www.seattlechildrens.org/conditions/myelomeningocele/
    Myelomeningocele (also called MMC) is the most serious form of spina bifida. […] In a baby with myelomeningocele, a sac holding parts of the spinal cord pushes out through their back. Myelomeningocele is most common in the lower back. The higher the MMC is on your baby’s spinal cord, the more nerve damage it causes. […] Your child may have: Problems moving parts of the body below the opening in the back, Lack of sensation in their legs and feet, Poor or no bowel and bladder control, Twisted or abnormal legs and feet, such as clubfoot, A buildup of cerebrospinal fluid (CSF) in the head (hydrocephalus), Problems with how the back of the brain formed (Chiari 2 malformation), Learning differences or delayed developmental milestones. […] Each child is different. MMC – the most severe form of spina bifida – may affect your child their whole life. The location of the MMC on the spine matters. Myelomeningocele higher in the spine causes more severe symptoms. Spina bifida may affect your child’s mobility, bowel and bladder function, or sensation. […] MMC can affect your child’s movement, sensation, bowel and bladder control, or learning.
  • #20 Myelomeningocele – Seattle Children’s
    https://www.seattlechildrens.org/conditions/myelomeningocele/
  • #21 Spina Bifida: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/311113-overview
    The neurologic damage generally results in a neurogenic bowel and bladder, which leads to incontinence. […] Myelomeningocele often occurs along with multiple system congenital anomalies. […] The ability to ambulate depends on, and directly correlates with, the functional sensorimotor level. […] Studies have shown that approximately 50-60% of young adult patients ambulate household or community distances, with about 20% of these patients using some orthotic or assistive device. […] The data on continence from the literature is variable, which in part reflects inconsistencies in the definition of social continence. Studies report 40-85% achievement of bladder continence and 50-85% achievement of bowel continence. […] The likelihood of social continence improves when training is instituted before age 7 years.
  • #22 Spina Bifida | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/spina-bifida
    Children with myelomeningocele may have learning disabilities, such as difficulty paying attention and understanding concepts, impaired motor skills and memory, and challenges with organization and problem solving. […] Most people with myelomeningocele and closed neural tube defects experience incontinence because these conditions affect the nerves at the bottom of the spine that control bowel and bladder function. […] As people with myelomeningocele and neural tube defects age, they may experience other health issues, including skin ulcers, low bone mineral density, fertility problems (in men), obesity, kidney failure, early puberty, sleep apnea, and depression.
  • #23 Spina Bifida in Adults 101: Types, Tests and Treatments – Commons Clinic
    https://commonsclinic.com/spina-bifida-in-adults/
    About 70 to 90% of people with myelomeningocele also have fluid in the brain where the spinal cord cant drain properly. This can cause swelling and pressure, leading to brain damage if not treated. […] Living with spina bifida often brings emotional and mental health challenges such as anxiety, depression, and social isolation due to physical limitations and chronic pain. […] Some complications that may occur include: Hydrocephalus (fluid on the brain). This complication can cause learning disabilities or epilepsy, a seizure disorder. […] Bladder problems affect 24 to 98% of people with spina bifida. Nerve damage can cause problems with bladder muscles, making it difficult to empty the bladder or control urination. […] Spina bifida is a rare condition that develops before birth. It affects the spinal cord and nerves of the spinal column. Depending on the location of damage, symptoms and complications can range from leg weakness to frequent bladder infections to fluid on the brain.
  • #24 Spina bifida | NHS inform
    https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/spina-bifida/
    Spina bifida can cause symptoms like: […] weakness or complete loss of movement of lower limbs […] sensation changes in the legs and/or torso […] curvature of the spine due to muscle weakness (scoliosis) […] urinary incontinence […] urinary retention […] repeat or frequent urinary tract infections […] kidney problems […] bowel incontinence, leading to constipation and/or diarrhoea […] hydrocephalus (excess fluid on the brain) […] skin problems […] latex allergy. […] Closed spinal defect is less severe. It usually causes mild or no neurological symptoms. The baby may need surgical intervention later in life. […] Open spinal defect is the most severe type of spina bifida. It means that the babys spinal cord and protective membranes are outside the spinal canal, in the open. Often, theres also spinal fluid leakage around the defect.
  • #25 Spina Bifida and Myelomeningocele | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/spina-bifida-and-myelomeningocele
    Spina bifida occulta. This is the mildest form of spina bifida. The bones in the lower back around the spinal cord and nerves dont form the right way. […] Some other conditions that children with spina bifida may have include: Hydrocephalus A condition where the fluid inside and around the brain builds up. This causes pressure on the brain or spinal cord. Surgery may be needed to relieve the pressure. […] Chiari II malformation A condition where a part of the brainstem and the lower back part of the brain (called the cerebellum) are pulled down through the base of the skull. […] Neurogenic bladder A condition where the nerves in the spinal cord that control the bladder do not form correctly. This means that your childs bladder will have trouble holding pee, emptying the bladder (peeing), or both.
  • #26
    https://www.nhs.uk/conditions/spina-bifida/
    Most people with spina bifida are able to have surgery to close the opening in the spine. […] But the nervous system will usually already have been damaged, which can lead to problems such as: weakness or total paralysis of the legs, bowel incontinence and urinary incontinence, loss of skin sensation in the legs and around the bottom the child is unable to feel hot or cold, which can lead to accidental injury. […] Many babies will have or develop hydrocephalus (a build-up of fluid on the brain), which can further damage the brain. […] Most people with spina bifida have normal intelligence, but some have learning difficulties.
  • #27 Living with Spina Bifida | Spina Bifida | CDC
    https://www.cdc.gov/spina-bifida/living-with/index.html
    People with spina bifida often cannot control when they go to the bathroom (incontinence). They also can develop urinary tract infections. […] Children and adults living with spina bifida may have limited feeling in some areas of their body. This can leave them unable to feel cuts, bruises, sores, and dry skin. Since a person with spina bifida may not know they’ve been hurt, they may be unable to tell a parent or caregiver that they need help. […] Some people with spina bifida have difficulty with learning, relating to others, vision, staying at a healthy weight, and depression.
  • #28
    https://www.emmasdiary.co.uk/baby/baby-health-and-illnesses/understanding-spina-bifida-in-babies
    Spina bifida means split spine and is a condition that happens when your babys spine and spinal cord havent developed properly in the womb, causing a gap in the spine. […] How seriously your baby is affected by spina bifida will depend on the type diagnosed and how severe it is. The size and location of the gap on the spine and whether the spinal nerves have been exposed will influence this. […] Mobility difficulties if the spinal nerves have been exposed and damaged this can cause paralysis or muscle weakness in the legs. […] Bladder and bowel problems the nerves that control bladder and bowel function may not have formed properly, affecting urinary and bowel continence. […] Excess fluid on the brain (hydrocephalus) can damage the brain and spinal cord. This can be associated with learning difficulties. […] Other problems related to spina bifida are skin problems caused by reduced sensation in the legs and feet, such as infected blisters and pressure sores.
  • #29 Spina bifida – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/spina-bifida/diagnosis-treatment/drc-20377865
    Nerve function in babies with spina bifida can get worse if it’s not treated. Prenatal surgery for spina bifida, also known as fetal surgery, takes place before the 26th week of pregnancy. […] Research suggests that children with spina bifida who have fetal surgery may have less disability and be less likely to need crutches or other walking devices. Fetal surgery also may lower the risk of hydrocephalus. […] Myelomeningocele requires surgery to close the opening in the baby’s back within 72 hours of birth. Early surgery can help lower the risk of infection associated with the exposed nerves. It also may help protect the spinal cord from more trauma. […] In babies with myelomeningocele, nerve damage that can’t be repaired has likely already occurred in the uterus. Ongoing care from a multispecialty team of surgeons, physicians and therapists usually is needed. […] Children with spina bifida need close follow-up care and observation. Their healthcare professionals evaluate their growth, the need for vaccinations and general medical issues.
  • #30 Myelomeningocele (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/myelomeningocele.html
    Myelomeningocele (my-uh-lo-meh-NIN-guh-seal) is a type of spina bifida. Spina bifida (SPY-nuh BIF-ih-duh) happens when a baby’s backbone (spine) does not form normally during pregnancy. The baby is born with a gap in the bones of the spine. […] The signs and symptoms of a myelomeningocele depend on where it is. A myelomeningocele can lead to: weakness, loss of feeling, or trouble moving body parts below the level of the myelomeningocele; problems with bladder (pee) and bowel (poop) control; too much spinal fluid in the brain (hydrocephalus); problem with how the brain is formed (Chiari malformation); learning problems; seizures. […] A myelomeningocele that’s not diagnosed during pregnancy is seen when the baby is born. […] After delivery, a baby born with a myelomeningocele will need: surgery to close the skin over the myelomeningocele (usually within 3 days); testing for Chiari malformation and hydrocephalus with an ultrasound, CT scan, or MRI; regular checks of head size to see if hydrocephalus develops; regular checks of movements to see how the spinal cord and nerves are working.
  • #31 Information for General Practitioners – Shine
    https://www.shinecharity.org.uk/spina-bifida/adults-with-spina-bifida-a-information-for-general-practitioners
    Spina bifida is a developmental disorder of the spinal cord and brain, which usually leads to some loss of neurological function below the lesion. Neuropathic bladder and bowel, reduced mobility and skin sensation are often experienced, along with subtle but significant cognitive impairment associated with hydrocephalus. […] However, many adults with spina bifida are reporting a deterioration in mobility associated with tethered cord, and arthritic changes to the neck and shoulders, which detract from their quality of life and independence. […] Neuropathic bladder and bowel are noted in approximately 90% of people with spina bifida aperta, and around 50% of people with significant spina bifida occulta. […] Patients in their 40s who may have been out of follow-up for many years, may have developed an atonic bladder and be prone to UTIs.
  • #32 Spina Bifida: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/311113-overview
    Studies of adults with myelomeningocele have shown that about 20-30% secure gainful employment. […] Neurologic complications in patients with myelomeningocele are related to a variety of CNS and spinal cord pathologies. […] Approximately 25-35% or more of children with myelomeningocele are born with hydrocephalus, and an additional 60-70% develop hydrocephalus after closure of the myelomeningocele lesion. […] Hydrocephalus can cause expansion of the ventricles and loss of cerebral cortex and is associated with an increased risk of cognitive impairment.