Disease Information for Juvenile spinal muscle atrophy (Kugelberg-Welander): Definition

  • Kugelberg Welander Syndrome; juvenile spinal muscular atrophy; KWS; SMA3; Spinal muscular atrophy type 3; Kugelberg Welander syndrome is a type of spinal muscular atrophy; It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, twitching, clumsiness in walking, and eventual loss of reflexes; Symptoms of Kugelberg Welander syndrome occur after 12 months of age; Patients learn to walk but fall frequently and have trouble walking up and down stairs at 2-3 years of age; The legs are more severely affected than the arms; The long-term prognosis depends on the degree of motor function attained as a child; it is inherited as an autosomal recessive trait; caused by mutations in the SMN (survival motor neuron) gene on chromosome 5; Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA; ----[NORD 2005)------------

    Wohlfart-Kugelberg-Welander syndrome; Kugelberg-Welander syndrome; Atrophia musculorum pseudomyopathica; atrophia musculorum spinalis pseudomyopathica; hereditary proximal neurogenic muscular atrophy; hereditary proximal spinal muscular atrophy; juvenile progressive spinal muscular atrophy; juvenile spinal muscular atrophy; muscular atrophy syndrome; progressive muscular dystrophy with fibrillary twitching; progressive myelopathic muscular atrophy; progressive spinal muscular atrophy; proximal spinal muscular atrophy; pseudomyopathic spinal muscular atrophy; spinal muscular atrophy; spinal muscular atrophy (SMA) type III; hereditary proximal spinal muscular atrophy; neurogenic familial girdle type of muscular atrophy, type K-W;

    Hereditary juvenile spinal muscular atrophy, characterised by slowly progressive muscular weakness, due to degeneration of anterior horn cells; Onset is between the ages of 2 and 17 years; The early symptoms, consisting of atrophy and weakness of the proximal muscles of the extremities, mainly the legs, are followed by involvement of the muscles of the trunk and distal muscles of the extremities; Fasciculation and electromyographic disorders indicate lesions of the spinal motor neurons; Both sexes affected, but more severe in males than females; Inheritance is mostly autosomal recessive, but some families with autosomal dominant inheritance have been described, very rarely, X chromosomal; Some families also have Werdnig-Hoffman disease and so the conditions may be related; Often confused with muscular dystrophy

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