The peripheral manifestations of the inherited neuropathies are increasingly well characterized, but their effects upon cranial nerve function are not well understood. Hearing loss is recognized in a minority of children with this condition, but has not previously been systemically studied. A clear understanding of the prevalence and degree of auditory difficulties in this population is importa...

OBJECTIVE It has been reported that the non-dominant hand of patients with Charcot-Marie-Tooth disease is stronger than the dominant hand as a result of overwork weakness. The objective of this study was to determine if this hypothesis could be verified in our population. DESIGN Survey. SUBJECTS Twenty-eight patients with Charcot-Marie-Tooth disease type I or II from a rehabilitation depart...

A 24 years old male, who presented to us with uraemic symptoms secondary to chronic glomerulonephritis. On examination, he was found to have features of peripheral neuropathy which was confirmed as Charcot-Marie-Tooth type 1 on nerve conduction studies. Very few cases of glomerular disease, mainly focal segmental glomerulosclerosis have been associated with the Charcot-Marie-Tooth worldwide.

BACKGROUND Charcot-Marie-Tooth disease is an inherited neuropathy causing progressive weakness, foot deformity and difficulty walking. Clinical anecdotes suggest orthoses designed on the 'sensorimotor' paradigm are beneficial for improving gait in Charcot-Marie-Tooth disease. OBJECTIVES Investigate the effect of sensorimotor orthoses on in-shoe and lower limb biomechanics in adults with Charc...

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

Vascular reflexes were assessed in 17 adult patients with Charcot-Marie-Tooth disease using the Valsalva manoeuvre, and the pulse rate and systolic blood pressure responses to standing. Six patients showed abnormalities consistent with an autonomic neuropathy. One patient had giant nerve fibre bundles in the myenteric plexus of bowel resected for co-existent Crohn's disease, indicating histolog...

Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in mammalian cells. How mutations in this protein lead to Charcot-Marie-Tooth disease type 2A pathophysiology remains unclear. We have generated a transg...

Peripheral nerve axons require a well-organized axonal microtubule network for efficient transport to ensure the constant crosstalk between soma and synapse. Mutations in more than 80 different genes cause Charcot-Marie-Tooth disease, which is the most common inherited disorder affecting peripheral nerves. This genetic heterogeneity has hampered the development of therapeutics for Charcot-Marie...