The aim of this study was to evaluate A-delta fibre function in a patient with hereditary sensory-autonomic neuropathy (HSAN). We used the mixed and cutaneous silent period techniques in addition to a conventional electromyographic investigation in a patient with type 2 HSAN, a rare disease characterised by wide-spread sensory and variable autonomic dysfunction caused by incomplete development ...

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...

Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. We describe here a case of type IV HSAN, the second commonest variety of HSAN and attempt to present a short review of literature. Families of these children need support, proper guidance and counseling for taking better care of the diseased. The goal should be to help them achieve independent fun...

Autonomic neuropathy is the term used to describe autonomic disturbances resulting from diseases of the peripheral autonomic nervous system. This is a group of disorders in which the small, lightly myelinated and unmyelinated autonomic nerve fibers are selectively targeted. Most often, autonomic neuropathies occur in conjunction with a somatic neuropathy (i.e. with motor weakness and/or sensory...

Case presentation: A 17-year-old girl presented recurrent skin injuries on both feet with onset at 2 years old. She had labile temperature unexplained hyperthermia episodes. Parents were consanguineous and two healthy younger brothers. Past medical history included chronic osteomyelitis of the right foot after cellulitis. On examination, there are acral mutilations hands dry skin; reduced bilat...

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...

Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of...

C oexistence of neuropathy and chronic cough seems to be rare, but a series of recent reports have shown that it certainly occurs more frequently that we would expect by a chance association. As is the rule in neurogenetics, this coexistence seems to be associated to phenotypic and genotypic heterogeneity. At least 2 reports described the existence of cough and a sensory and motor neuropathy, e...

The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinp...

INTRODUCTION Changes in human behaviour and lifestyle over the last century have resulted in a dramatic increase in the incidence of diabetes worldwide. Neuropathy is a common and costly complication of both type 1 and type 2 diabetes. The prevalence of neuropathy is estimated to be about 8% in newly diagnosed patients and greater than 50% in patients with long-standing disease. There are two m...