[Familial spinal muscular atrophy of the Kugelberg-Welander type]

The patients was a 16-year old girl with the spinal muscular atrophy. Clinical laboratory and genetic investigations were performed. A close relative of the proband suffering from the same ailment was found in analysing the genealogic tree. Enzymatic study (creatine phosphokinase, lactic dehydrogenase) of the proband and her parents proved the autosome-recessive type of inheriting the disorder.