Charcot-Marie-Tooth hereditary motor and sensory neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. Typical cases have distal muscle weakness and peroneal atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and pes cavus. Hereditary neuropathies are categorized by mode of inheritance and chromosomal locus. T...

A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still...

Charcot-Marie-Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was char...

OBJECTIVE To report familial occurrence of polyneuropathy associated with monoclonal gammopathy. DESIGN Case reports. PATIENTS We describe 6 patients (3 pairs) with a polyneuropathy associated with IgM monoclonal gammopathy. Four of the 6 patients had a demyelinating polyneuropathy on neurophysiological examination. Three patients had elevated antibodies against myelin-associated glycoprote...

Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN)...

Pure trigeminal motor neuropathy is characterized by trigeminal motor weakness without signs of trigeminal sensory or other cranial nerve involvement. We describe a 63-year-old woman with progressive weakness and atrophy of the left masticatory muscles. She had no sensory disturbance. The diagnosis of pure trigeminal motor neuropathy was made on the basis of clinical and electrophysiologic stud...

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is the second most common hereditary motor sensory neuropathy (HMSN) representing an estimated 10%–15% of occurrences. CMTX1 arises from mutations in the gap-junction beta-1 gene (GJB1) on chromosome Xq13.1, which encodes the gap-junction protein connexin-32. Rather unique to CMTX1, among other forms of HMSN, is CNS involvement in a minority o...

This study investigated sensory and motor nerve excitability properties to elucidate the development of diabetic neuropathy. A total of 109 type 2 diabetes patients were recruited, and 106 were analyzed. According to neuropathy severity, patients were categorized into G0, G1, and G2+3 groups using the total neuropathy score-reduced (TNSr). Patients in the G0 group were asymptomatic and had a TN...

OBJECTIVES Poisoning by organophosphate insecticides causes cholinergic toxicity. Organophosphate induced delayed polyneuropathy (OPIDP) is a sensory-motor distal axonopathy which usually occurs after ingestion of large doses of certain organophosphate insecticides and has so far only been reported in patients with preceding cholinergic toxicity. Surprisingly, it was recently reported by other ...