Kugelberg-Welander disease


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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.

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 disease
Müeller-Kugelberg syndrome - see under Müeller
Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease

Welander,

Lisa, Swedish neurologist, 1909–.
Kugelberg-Welander disease - see under Kugelberg
Welander myopathy
Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease
References in periodicals archive ?
SMA type III, also called Kugelberg-Welander disease, appears between 2 and 17 years of age and includes abnormal gait; difficulty running, climbing steps, or rising from a chair; and slight tremor of the fingers (NINDS, 2007).
Infantile spinal muscular dystrophy includes 3 subtypes: type 1 (acute, fatal) or Werdnig-Hoffman disease; type 2, intermediate; and type 3, chronic or Kugelberg-Welander disease.
But then when I was older I got very sick, and they found out I had a rare illness called Kugelberg-Welander disease.