The association of hereditary neuropathies and heritable skeletal disorders.

The association of hereditary neuropathies and heritable skeletal disorders.

We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.

Hereditary 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...

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...

Expandable DNA Repeat and Human Hereditary Disorders

Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...

Medical Rehabilitation in Hereditary Neuropathies