spinal muscular atrophy, Jokela type

Term ID

DOID:0081356

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. (2)

References

• OMIM:615048
• ORDO:276435

Ontology

Human Disease   ( DOID:0081356 )