A Family with Kugelberg-Welander Syndrome

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

“…Furthermore, in pedigrees B-G different types of SMA are present in each pedigree. A few well-documented pedigrees with clinical data, electromyographic and histopathological investigations like our seven pedigrees have been described by Brandt (1950), Amick et al (1966), Almog & Tal (1968), Zellweger et al (1969, 1972), and Zeiler et al (1976, but only Amick et al…”

“…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.…”

The nosology of the spinal muscular atrophies.

“…Consanguinity among the parents of affected individuals has also been noted (Hanhart, 1962;Spira, 1963;Radu et al, 1966;Almog and Tal, 1968). It has been reported that some healthy heterozygotes appear to have hyperaminoaciduria (Almog and Tal, 1968) or may be detected by electromyography (Spira, 1967). These findings await confirmation.…”

“…Juvenile spinal muscular atrophy has been described in identical twins (Hausmanowa-Petrusewicz et al, 1962;Zellweger et al, 1969b), and including those first described by Wohlfart et al (1955) and Kugelberg and Welander (1956) there have been many reports of families with multiple affected sibs suggesting autosomal recessive inheritance (Byers and Banker, 1961;Levy and Wittig, 1962;Castaigne et al, 1963;Dubowitz, 1964;Garvie and Woolf, 1966a;Radu et al, 1966;Gamstorp, 1967;Gardner-Medwin et al, 1967;Rowland et al, 1967;Peters et al, 1968;Meadows et al, 1969a;Hausmanowa-Petrusewicz, 1970). Consanguinity among the parents of affected individuals has also been noted (Hanhart, 1962;Spira, 1963;Radu et al, 1966;Almog and Tal, 1968). It has been reported that some healthy heterozygotes appear to have hyperaminoaciduria (Almog and Tal, 1968) or may be detected by electromyography (Spira, 1967).…”

“…In spinal muscular atrophy, however, apart from a fine tremor often most marked in the limb leads, the ECG is usually normal (Emery, 1972). Some investigators have reported increased amounts of amino acids in urine and serum in some patients with spinal muscular atrophy (Almog and Tal, 1968;Gorecka, 1969). However this and the increased levels of creatine in urine and serum (Namba et al, 1970), probably merely reflect muscle wasting since they are most marked in patients with the severe infantile (Werdnig-Hoffmann) form and are also found in the severer forms of muscular dystrophy.…”