Heredofamilial Juvenile muscular Atrophy Simulating muscular Dystrophy

Dilated Cardiomyopathy in Kugelberg-Welander Disease: Coexisting Sleep Disordered Breathing and Its Treatment with Continuous Positive Airway Pressure

“…Moreover, genetically diagnosed KWD with possible secondary dilated cardiomyopathy has not yet been reported, to our knowledge. This is partly because the responsible genes for SMA were first identified only in 1995, and the DNA analysis in SMA has rarely been attempted in KWD which runs a slow, indolent course mimicking limb-girdle muscular dystrophy (4). In contrast, pediatricians in general have paid attention to genetically diagnosing Werdnig-Hoffmann disease of acute/infantile SMA, which has an earlier onset and a rapidly fatal course.…”

Chronic spinal muscular atrophy

“…An uncommon variant of chronic anterior horn cell degeneration was described by Wohlfart, Fex, and Eliasson (1955) and by Kugelberg and Welander (1956). This syndrome was characterized by (1) wasting, weakness, and hyporeflexia predominantly affecting the proximal muscles and simulating muscular dystrophy; (2) an onset in childhood or adolescence; (3) a very slow rate of progression; (4) a hereditary transmission as a non-sex-linked recessive gene; and (5) a neurogenic pattern on muscle biopsy and electromyography.…”

“…The motor nerves showed collateral innervation (Fig. 16) (Wohlfart, 1942;Wohlfart et al, 1955;Kugelberg and Welander, 1956): proximal muscular atrophy; slow rate ofprogression; fasciculation; onset usually in childhood or adolescence; inheritance as an autosomal recessive and the neurogenic nature of the disease confirmed by muscle biopsy and electromyography. Signs of bulbar and pyramidal tract involvement were absent.…”

“…Occasional cases, such as some of those reported by Kugelberg and Welander (1956), have a negative family history. A dominant inheritance was present in the family described by Magee and DeJong (1960).…”

“…It was certainly present in our patients, but considerable distal amyotrophy could coexist. Distal amyotrophy was recorded in six of the 16 patients reported by Kugelberg and Welander (1956) and hence the term 'hereditary proximal neurogenic muscular atrophy' (Tsukagoshi et al, 1965) is not a strictly accurate designation.…”