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GENATLAS PHENOTYPE

last update : 04/11/06

Symbol	SMAPA
Location	20q13.32
Name	spinal muscular atrophy proximal, adult type
Other name(s)	Finkel type of late-onset autosomal dominant spinal muscular atrophy
Corresponding gene	VAPB
Main clinical features	degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting, age at disease onset >30 years, slowly progressive spinal muscular atrophy
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)