释义 |
Wohlfart-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 diseaseKugelberg, 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
Wohlfart, Gunnar, Swedish neurologist, 1910-1961. Gamstorp-Wohlfart syndrome - see under GamstorpWohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease |