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GENATLAS PHENOTYPE

last update : 16-04-2019

Symbol	SMALO
Location	22q12
Name	spinal muscular atrophy late onset
Other name(s)	late-onset spinal motor neuronopathy spinal muscular atrophy, Jokela type
Corresponding gene	CHCHD10
Other symbol(s)	LOSMON, SMAJ
Main clinical features	disorder characterized by degeneration of lower motor neuron with weakness distal, and proximal adult onset of painful cramps and slowly progressive very late-onset weakness and atrophy of proximal and distal muscles; all patients were still ambulant, at least for short distances
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)