Hereditary sensory motor polyneuropathy

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Hereditary motor and sensory neuropathies.

The hereditary motor and sensory neuropathies (HMSN) represent a genetically heterogeneous collection of disorders in which patients develop a progressive muscular atrophy and sensory neuropathy of the distal extremities. Although Dyck' has noted seven types, the best described of these are HMSN types I and II (Charcot-Marie-Tooth disease) and Dejerine-Sottas (DS) disease, HMSN III. In contrast...

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Anorexia nervosa presenting as a subacute sensory-motor axonal polyneuropathy.

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Abnormalities of visual function in hereditary motor and sensory neuropathy.

Visual function was studied in a group of 15 patients with hereditary motor and sensory neuropathy (HMSN). Psychophysical measures of luminance and chromatic threshold and temporal contrast sensitivity were undertaken, together with visual evoked potentials (VEPs), visual fields and clinical neuro-ophthalmological examination. A patchy loss of visual function was found in individual cases of HM...

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The electrophysiological profile of hereditary motor and sensory neuropathy-Lom.

OBJECTIVE To make electrophysiological observations on a large kindred with hereditary motor and sensory neuropathy-Lom (HMSN-L) containing 27 affected individuals. CLINICAL FINDINGS Onset was in early childhood with gait difficulty related to progressive lower limb weakness. Upper limb weakness developed later. Bulbar involvement was present in one third of the patients, and deafness appeare...

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Diaphragmatic weakness in hereditary motor and sensory neuropathy.

Six patients severely affected by hereditary motor and sensory neuropathy (HMSN), four type I and two type II, had clinical evidence of diaphragmatic weakness. One presented with cardiorespiratory failure secondary to nocturnal hypoventilation, and three others were unable to lie flat because of dyspnoea. Diaphragmatic paralysis should be considered as a cause of respiratory or cardiac failure ...

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ژورنال

عنوان ژورنال: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery

سال: 2020

ISSN: 2410-8731,2309-3994

DOI: 10.17816/ptors21182