Hereditary Proximal Spinal Muscular Atrophy Biochemical Investigations

A Family with Kugelberg-Welander Syndrome

“…R ecen tly in a s tu d y dealing w ith the biochem ical changes in K -W syn d ro m e tw o ad d itio n al cases w ith d iabetic glucose tolerance curves were m entioned [5]. A lthough it is know n th a t m y elo p ath y m ay occur in d iab etics [4,7,10], we do not believe th a t these cases belong to the c a teg o ry o f d iab etic m y elo p ath y because this condition is c h a ra c ter ized b y asy m m etric m u scu lar findings, affects m ainly the lower lim bs and is usually associated w ith severe pains.…”

The nosology of the spinal muscular atrophies.

“…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. Reported changes in the electrophoretic patterns of serum proteins in spinal muscular atrophy (Ionasescu et al, 1965;Askanas, 1967) are difficult to evaluate. Comparable abnormalities have also been described in muscular dystrophy by Askanas (1967) but A. Jacobs (personal communication) has been unable to confirm these findings.…”