Lower motor neuron syndrome with late-adult onset

Engelsk navn: Lower motor neuron syndrome with late-adult onset
Engelske synonym: LOSMoN,Late-onset spinal motor neuronopathy,SMAJ,Spinal muscular atrophy, Jokela type


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.

Fra Orphanet

ORPHA: 276435
Klassifiseringsnivå: Disorder
ICD-10: G12.1

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