منابع مشابه
Hereditary motor and sensory neuropathies.
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...
متن کاملHereditary and Sensory Autonomic Neuropathies
Dear Editor; We read with interest two recent papers on Congenital insensitivity to pain with anhidrosis, entitled " Congenital insensitivity to pain and anhydrosis (CIPA) syndrome; a report of 4 cases " by Daneshjou et al [1] and " Congenital insensitivity to pain with anhidrosis (HSAN type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report " by Al...
متن کاملhereditary motor sensory neuropathies (hmsn): current trends and future implications for diagnosis and management.
hereditary motor sensory neuropathies (hsmn/cmt) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. hsmn/cmt is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. clinical presentations, gene mutati...
متن کاملMolecular genetics of distal hereditary motor neuropathies.
Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical ...
متن کاملChaperonopathies: Spotlight on Hereditary Motor Neuropathies
Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 1996
ISSN: 0960-8966
DOI: 10.1016/0960-8966(96)89011-0