spinal muscular atrophy, Jokela type (DOID:0081356)
Alliance: disease page
Alt IDs: OMIM:615048, ORDO:276435
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.