Hereditary motor and sensory neuropathies in Swedish children. II. Neuronal-axonal types

Clinical, neurophysiological and laboratory data are given for 32 children (30 kinships) considered to represent hereditary motor and sensory neurophaties (HMSN) of neuronal-axonal types. In 25 families (27 cases) one of the parents was found to be affected. In one both parents were normal. The mode of inheritance in the 27 patients with familial neuronal-axonal HMSN was concluded to be autosomal dominant HMSN II (Lambert type). The disability was mild to moderate and, on an average, less pronounced than in de- and remyelinating types of HMSN. Seven out of 27 were early toe-walkers of the secondary type. Cavus feet were noted in 25, hand atrophies in eight and mild scoliosis in five. Sensory complaints were recorded in 21. The nerve conduction velocities (NCVm and NCVs) of children and parents were slightly subnormal in a few. EMG proved to be the most important parameter for identifying subclinically affected parents.