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Autosomal recessive spastic ataxia
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ... type Genetic Testing Registry: Charlevoix-Saguenay spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay National Organization for Rare Disorders ( ...
- ... the SACS gene have been found to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay, commonly called ARSACS. ARSACS is ... A. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genet Test. 2001 Fall;5( ...
- ... Hair texture Hair color (light or dark hair) Autosomal recessive spastic ataxia of Charlevoix-Saguenay , also called ARSACS Andermann syndrome , ...
- ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia type 20 Spastic paraparesis, childhood-onset, with distal muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type SPG20 Genetic Testing ...
- ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia 5A Spastic paraplegia 5A SPG5A Genetic Testing ... paraplegia Genetic Testing Registry: Hereditary spastic paraplegia 5A ... type 5A Hereditary spastic paraplegia National Organization ...
- ... POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. ...
- ... MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPG5C SPG7_HUMAN Tests of SPG7 PubMed SPG7 ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 PubMed Atorino L, Silvestri L, Koppen M, ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35 PubMed Arber CE, ...
- ... 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type ...
