Lower motor neuron syndrome with late-adult onset

Orpha code: 276435OMIM code: 615048

Definition

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
Classification

Disease

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

No additional description.

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