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Results 31 - 40 of 79 for Ataxia -telangiectasia variant
  1. Transthyretin amyloidosis 
    ... fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and ... of people in some areas of West Africa. Variants (also called mutations) in the TTR gene cause ...
    https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis - Genetics
  2. DLG4-related synaptopathy 
    ... side (scoliosis). Movement problems, including impaired muscle coordination (ataxia), involuntary muscle coordination (dystonia), or rhythmic shaking (tremor) ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  3. SRD5A3-congenital disorder of glycosylation 
    ... tone (hypotonia), and problems with coordination and balance (ataxia). Vision problems in SRD5A3-CDG often include involuntary ... the scientific literature. SRD5A3-CDG is caused by variants (also known as mutations) in the SRD5A3 gene. ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  4. Free sialic acid storage disorder 
    ... and symptoms include problems with movement and balance (ataxia); abnormal tensing of the muscles (spasticity); and involuntary ... and has been reported in approximately 150 people. Variants (also called mutations) in the SLC17A5 gene cause ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  5. Galactosialidosis 
    ... This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that ... type of the condition are of Japanese descent. Variants (also called mutations) in the CTSA gene cause ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  6. Angelman syndrome 
    ... speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) ... because of a chromosomal change or a gene variant (also known as a mutation), a person will ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  7. Xia-Gibbs syndrome 
    ... Additional neurological features include poor coordination and balance (ataxia) and seizures. Feeding problems and sleep abnormalities can ... underlying cause. Xia-Gibbs syndrome is caused by variants (also known as mutations) in a gene called ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  8. Troyer syndrome 
    ... as intellectual disabilities, problems with coordination and balance (ataxia), and damage to the nerves that connect the ... has since been found in other populations. Some variants (also called mutations) in the SPART gene have ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  9. Rett syndrome 
    ... the milder end of the spectrum. Autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder ...
    https://medlineplus.gov/genetics/condition/rett-syndrome - Genetics
  10. Progressive Supranuclear Palsy (PSP): Frequently Asked Questions (Foundation for PSP/CBD and Related Brain Diseases)  
    Progressive Supranuclear Palsy/Learn More ... Progressive Supranuclear Palsy ... Foundation for PSP/CBD and Related Brain Diseases
    https://www.psp.org/iwanttolearn/faq - External Health Links
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