Distal motor neuropathies

Molecular 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 ...

Sensory Neuropathies Chronic Sensorimotor Distal Symmetrical Polyneuropathy

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...

Genetic heterogeneity of motor neuropathies

OBJECTIVE To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 pa...

Diplopia due to ocular motor cranial neuropathies.

PURPOSE OF REVIEW Determining which cranial nerve(s) is (are) involved is a critical step in appropriately evaluating a patient with diplopia. RECENT FINDINGS New studies have looked at the various etiologies of cranial nerve palsies in the modern imaging era. The importance of the C-reactive protein test in evaluating the possibility of giant cell arteritis has recently been emphasized. SU...