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Results 11 - 20 of 48 for Muscle spasm
  1. CUL3-related neurodevelopmental disorder 
    ... dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). People with CUL3-related neurodevelopmental disorder can have ... with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65(9):727- ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  2. Early-onset isolated dystonia 
    ... occur in mid-childhood or adolescence. Abnormal muscle spasms in an arm or a leg are usually ... causing isolated problems such as abnormal posture and spasms of the hand while attempting to write (writer' ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  3. PIGA gene 
    ... have profound intellectual disability, seizures known as infantile spasms, weak muscle tone (hypotonia), distinctive facial features, and ... individuals have mild to moderate intellectual disability, infantile spasms, and other seizures that can typically be treated. ...
    https://medlineplus.gov/genetics/gene/piga - Genetics
  4. Aicardi syndrome 
    ... callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) ... chorioretinal abnormality Agenesis of corpus callosum with infantile spasms and ocular abnormalities Aicardi's syndrome Callosal agenesis ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  5. SLC35A2-congenital disorder of glycosylation 
    ... of life, usually involving uncontrollable muscle stiffening (infantile spasms) that can switch to shorter episodes of muscle jerks (epileptic spasms) later in childhood. In some individuals, the seizures ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  6. Isolated lissencephaly sequence 
    ... ILS have a type of seizure called infantile spasms, these seizures can be severe enough to cause ... a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  7. Autosomal dominant hypocalcemia 
    ... common features of autosomal dominant hypocalcemia include muscle spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling or tingling sensations (paresthesias), ...
    https://medlineplus.gov/.../autosomal-dominant-hypocalcemia - Genetics
  8. Wolfram syndrome 
    ... smell (anosmia), loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities ( ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  9. TRPM6 gene 
    ... neurological problems that begin in infancy, including muscle spasms and seizures. TRPM6 gene mutations result in a ...
    https://medlineplus.gov/genetics/gene/trpm6 - Genetics
  10. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
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