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
Farlex Partner Medical Dictionary © Farlex 2012
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 disease
Müeller-Kugelberg syndrome - see under Müeller
Welander,Lisa, Swedish neurologist, 1909–.
Kugelberg-Welander disease - see under Kugelberg
Wohlfart,Gunnar, Swedish neurologist, 1910-1961.
Gamstorp-Wohlfart syndrome - see under Gamstorp
Medical Eponyms © Farlex 2012