Catalog

Limb-girdle myasthenia, familial

No MMS code

Link to WHO Definition

Limb-girdle myasthenia, familial – http://id.who.int/icd/entity/632700589

Familial limb-girdle myasthenia becomes manifest at various ages (birth to 3rd decade). There is weakness of the face, ptosis, proximal and axial muscles, respiratory muscles. Proximal more than distal. Mutations in GFPT1, DPAGT1, ALG2, ALG14 and DOK-7 give rise to this phenotype.