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
Definisjon
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
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
