Results 1 -
10
of
84
for
Infantile onset
- Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic ... upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure ...
- Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop ... hypotonia, ataxia, hypacusis, and athetosis Genetic Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA ...
- ... the condition. Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 synthase deficiency Infantile-onset symptomatic ...
- ... disorder in their family. SAVI STING-associated vasculopathy, infantile onset Genetic Testing Registry: STING-associated vasculopathy with onset ... Rare Disorders (NORD) ClinicalTrials.gov STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI PubMed Burdette DL, Monroe KM, Sotelo-Troha ...
- ... they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.The classic form of infantile-onset Pompe disease begins within a few months of ...
- ... been found to cause a condition called GARS1 infantile-onset spinal muscular atrophy (also known as infantile spinal ... eating, speaking, and breathing in people with GARS1 infantile-onset spinal muscular atrophy. Similar to distal hereditary motor ...
- ... ALS2 gene mutations have been found to cause infantile-onset ascending hereditary spastic paralysis. This disorder is characterized ... is unclear exactly how ALS2 gene mutations cause infantile-onset ascending hereditary spastic paralysis. Research suggests that a ...
- ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are ...
- ... infantile SMA XL-SMA XLSMA Genetic Testing Registry: Infantile-onset X-linked spinal muscular atrophy Infantile-onset X-linked spinal muscular atrophy National Organization for ...
- Spinal Muscular Atrophy/Start Here ... Spinal Muscular Atrophy ... Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect motor neurons. ...
(National Institute of Neurological Disorders and Stroke) 