Rare Disease Library

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

Adult-onset dystonia-parkinsonism

Dystonia-parkinsonism, Paisan-Ruiz type · PARK14

Adult-onset myasthenia gravis

Adult-onset acquired myasthenia · Adult-onset autoimmune myasthenia gravis

Adult-onset nemaline myopathy

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

GM1 gangliosidosis type 3

Adult-onset GM1 gangliosidosis

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis

Overlap myositis

Non-specific myositis · Adult-onset overlap myositis

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN