Lower motor neuron syndrome with late-adult onset

Orpha code: 276435OMIM code: 615048

Definicja

A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.

Disease data
Klasyfikacja

Disease

Synonimy
LOSMoN
Late-onset spinal motor neuronopathy
SMAJ
Spinal muscular atrophy, Jokela type
Kod ORPHA
276435
Kod OMIM
615048
Kod ICD10
G12.1
Kod ICD11
8B60.Y

No additional description.

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