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Muscle Computed Tomography Features of Motor Neuron Disease in Late‐Onset GM 2 Gangliosidosis
Author(s) -
Streifler Jonathan Y.,
Hadar Herzlia,
Gadoth Natan
Publication year - 1995
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/jon1995514
Subject(s) - medicine , motor neuron , disease , lower motor neuron , atrophy , neuromuscular disease , spinal muscular atrophy , pathology , physical medicine and rehabilitation , neuroscience , radiology , biology
Late‐onset GM, gangliosidosis, a rare inherited neuronal storage disease, is characterized by a vanety of clinical manifestations. The common clinical picture comprises neuromuscular, spinocerebellar, extrapyramidal, cognitive, and psychiatric abnormalities. Details of the extent of muscle involvement have never been reported. Eight patients with this syndrome were evaluated for the existence and extent of motor neuron disease using routine electrodiagnosis and systematic evaluation of skeletal musculature by computed tomography. Motor neuron disease was present in each and every patient regardless of the clmical manifestations and to a degree beyond that suspected on neurological examination. Muscle imaging disclosed a diffuse wasting and fatty replacement of muscles with predilection of pelvic and thigh muscles, and especially the quadriceps group. It seems that progressive motor disability in this syndrome IS mainly due to motor neuron disease, as manifested by muscle atrophy, which can be easily demonstrated by muscle computed tomography.