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 disease

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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

Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease

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Welander,

Lisa, Swedish neurologist, 1909–.

Kugelberg-Welander disease - see under Kugelberg

Welander myopathy

Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease

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Wohlfart,

Gunnar, Swedish neurologist, 1910-1961.

Gamstorp-Wohlfart syndrome - see under Gamstorp

Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease

Medical Eponyms © Farlex 2012