منابع مشابه
Hereditary sensory and autonomic neuropathy: A case report
A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
متن کامل[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diag...
متن کاملAbnormalities 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...
متن کاملThe 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...
متن کاملDiaphragmatic 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: Journal of Medical Genetics
سال: 1981
ISSN: 1468-6244
DOI: 10.1136/jmg.18.5.399