Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

“…The presence of at least one other patient with SMA in all our pedigrees with SMA type I1 patients, however, does not fit into this suggestion. Zerres & Grimm (1983) in discussing the genetic counseling problems in a family similar to our 7 pedigrees stated that their findings are difficult to explain in terms of autosomal dominant or recessive inheritance. Furthermore, they bring up the question of gene frequencies.…”

“…However, several authors have described familial SMA affecting distant relatives, indicating a hereditary pattern incompatible with simple autosomal recessive inheritance (Brandt 1950, Wohlfart et a]. 1955, Kugelberg & Welander 1956, Becker 1964, Amick et al 1966, Almog & Tal 1968, Zellweger et al 1969, White & Blaw 1971, Zellweger et al 1972, Hausmanowa-Petrusewicz et al 1976, Zeiler et al 1976, Zerres & Grimm 1983. Becker (1964) analysed this mode of inheritance and postulated an allelic model.…”

“…Becker (1964) analysed this mode of inheritance and postulated an allelic model. This hypothesis was recently used in genetic counseling on a family with SMA (Zerres & Grimm 1983).…”

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

“…There are even several observations of SMA families with an unusual genetic pattern, not consistent with simple autosomal recessive inheritance (Bouwsma and Leschot 1986;Hausmanowa-Petrusewicz et al 1976;Zerres and Grimm 1983;Zerres et al 1987). In some of these families, both ASMA and CSMA cases are present.…”

Feline Spinal Muscular Atrophy

“…Affected cats had elevation of serum creatine kinase and electrodiagnostic findings very similar to those seen in SMAIII, also known as Kugelberg-Welander disease (11). Likewise, muscle biopsy showed neurogenic atrophy, while examination of the central and peripheral nervous system showed that the primary abnormality was loss of anterior horn cells.…”