Rare Disease Library

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

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

Kugelberg-Welander disease · SMA

OBSOLETE: Distal spinal muscular atrophy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy

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

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Congenital muscular dystrophy

CMD · MDC

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal myopathy

Distal muscular dystrophy

Duchenne muscular dystrophy

DMD · Duchenne

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Kennedy disease

SBMA · X-linked BSMA

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Progressive muscular atrophy

PMA

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

Young adult-onset distal hereditary motor neuropathy

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