Rare Disease Library

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Kugelberg-Welander disease · SMA

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Progressive muscular atrophy

PMA

Progressive muscular dystrophy