Kugelberg-Welander disease


spinal mus·cu·lar at·ro·phy type III

[MIM*253400] the juvenile form, with onset in childhood or adolescence; characterized by progressive proximal muscular weakness and wasting, primarily in the pelvic girdle, followed by distal muscle involvement; caused by degeneration of motor neurons in the anterior horns of the spinal cord; autosomal recessive inheritance, caused by mutation in the SMN1 gene on 5q. Synonym(s): juvenile muscular atrophy, juvenile spinal muscular atrophy, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander disease

Kugelberg-Welander disease

(koo′gĕl-bĕrg-vō′lăn-dĕr) [Eric Klaus Henrik Kugelberg, 1913–1983; L. Welander, b. 1909; Swedish neurologists] Juvenile spinal muscular atrophy.

Kugelberg,

Eric, Swedish neurologist, 1913-1983. Kugelberg-Welander disease - slowly progressive proximal muscular weakness with fasciculation and wasting. Synonym(s): juvenile spinal muscular atrophy; Wohlfart-Kugelberg-Welander diseaseMüeller-Kugelberg syndrome - see under MüellerWohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease

Welander,

Lisa, Swedish neurologist, 1909–. Kugelberg-Welander disease - see under KugelbergWelander myopathyWohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease