Orphanet: Autosomal recessive lower motor neuron disease with childhood onset

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Autosomal recessive lower motor neuron disease with childhood onset

Disease definition

A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.

ORPHA:206580

Classification level: Disorder

Synonym(s):
- Autosomal recessive distal spinal muscular atrophy type 4
- Distal spinal muscular atrophy type 4
- dSMA4
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: G12.2
ICD-11: 8B61.4
OMIM: 611067
UMLS: C1970211
MeSH: -
GARD: -
MedDRA: -

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Autosomal recessive lower motor neuron disease with childhood onset

ORPHA:206580

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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