Orphanet: Autosomal dominant childhood onset proximal spinal muscular atrophy

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Autosomal dominant childhood-onset proximal spinal muscular atrophy

Disease definition

A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

ORPHA:363447

Classification level: Disorder

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
- SMALED
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Childhood, Adolescent, Antenatal, Neonatal
ICD-10: G12.1
ICD-11: 8B61.Y
OMIM: 158600 615290
UMLS: C1834690
MeSH: -
GARD: -
MedDRA: -

Detailed information

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Genetic Testing

Guidance for genetic testing
Français (2018, pdf) - ANPGM

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Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Clinical Outcome Assessment (COA)

Genetic Testing

Further information on this disease

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