Neuromyotonia in hereditary motor neuropathy.
نویسندگان
چکیده
منابع مشابه
Neuromyotonia in hereditary motor neuropathy.
Two siblings with a distal motor neuropathy experienced cramping and difficulty in relaxing their muscles after voluntary contraction. Electromyographic recordings at rest revealed repetitive high voltage spontaneous electrical discharges that were accentuated after voluntary contraction and during ischaemia. Regional neuromuscular blockage with curare indicated hyperexcitability of peripheral ...
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 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 ...
متن کاملDetection of hereditary motor sensory neuropathy type I in childhood.
Clinical signs and slowed motor nerve conduction velocities were found in 17 of 36 children under 10 years of age who had one parent with hereditary motor sensory neuropathy type I (HMSN I). Four children had slowed conduction velocities at one year or less. Clinical signs were subtle and included pes planus, distal foot wasting, weakness of ankle eversion and dorsiflexion and areflexia. HMSN I...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1991
ISSN: 0022-3050
DOI: 10.1136/jnnp.54.3.230