The electrophysiological profile of hereditary motor and sensory neuropathy-Lom
نویسندگان
چکیده
منابع مشابه
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...
متن کاملN-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell differentiation, and cell-cell interactions in...
متن کاملHereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where the initial cases were found. It was subsequently identified in other gypsy communities. The disorder, which is of autosomal recessive inheritance, was mapped to chromosome 8q24. It begins consistently in the first decade of life w...
متن کاملHereditary 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...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2005
ISSN: 0022-3050
DOI: 10.1136/jnnp.2004.040030