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HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN SWEDISH CHILDREN III
Author(s) -
HAGBERG B.,
WESTERBERG B.,
HAGNE I.,
SELLDÉN U.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09767.x
Subject(s) - medicine , scoliosis , pediatrics , sensory system , gait , nerve conduction , physical medicine and rehabilitation , surgery , neuroscience , biology
. Clinical, neurophysiological and certain other laboratory data are given for 10 children considered to represent sporadic cases of de‐ and remyelinating hereditary motor and sensory neuropathies (HMSN). In all 10 families the parents had been found to be non‐affected and said to be non‐consanguineous. Nine of the 10 families originated from the two most northerly Swedish counties, but none from the Gothenburg area. The median age at clinical onset was 3 years. Gait abnormalities and/or foot deformities were common reasons for referral. Scoliosis developed in all 10 and hand atrophies in 7 children. In the majority there was neurological deterioration through childhood. Nerve conduction velocities, both motor and sensory, were consistently and markedly reduced. The protein level in cerebrospinal fluid (medium 657 mg/l) was slightly to moderately raised in 7 of 9 examined children and ≧1500 mg/l in the remaining two. The fatty acid pattern of serum lecithin was consistently normal in all 10.