Term Name: spinal muscular atrophy, Jokela type
Synonyms:
Definition: A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
Ontology: Human Disease [DOID:0081356]   ( DOID:0081356 )

Relationships
is a type of: autosomal dominant disease spinal muscular atrophy