Inherited Neuropathies.

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Curr Treat Options Neurol. 2011 Feb

Inherited Neuropathies.

Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M.

Department of Neuroscience, Ophthalmology, and Genetics, University of Genoa,

Via De Toni 5, 16132, Genova, Italy

Abstract

OPINION STATEMENT: Inherited peripheral neuropathies are among the most common

hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease,

also known from previous classifications as hereditary motor and sensory

neuropathy (HMSN), is certainly the most common inherited neuropathy. In the

past several years, various treatments for CMT have been proposed, although

specific therapies are not yet available.

In clinical practice, rehabilitative strategies remain the most helpful

therapeutic approach to these patients. There is still a lack of consensus on

the best way to rehabilitate patients affected by CMT.

Based on our personal experience and on a review of the literature, we first

recommend the prescription of ankle-foot orthoses (AFO) for patients affected by

CMT; the choice of which patient, which AFO, and when to apply it depends on the

individual condition of each patient and on the experience of the

physician/therapist.

Second, adaptive equipment (eg, button hook, long-handled shoehorn, elastic shoe

laces) is available to compensate for hand deformities, sensory loss, and

weakness. Third, moderate to intense strength training and aerobic exercise are

well tolerated by patients affected by CMT; further studies are needed to

establish whether these approaches are effective in improving their motor

function and strength.

There is not enough evidence to recommend muscle stretching exercises or

proprioceptive kinesiotherapy, although in our experience both approaches may be

helpful in selected CMT patients to prevent tendon retractions, muscle

tightening, and loss of strength, and to improve balance. There is growing

knowledge of the underlying genetic defects and molecular pathophysiology in

CMT. To date, only a few clinical trials in CMT patients have been performed.

A neurotrophic factor, neurotrophin 3, was used in a small sample of CMT1A

patients with promising results, but it has not been tested in a larger cohort

and there is currently no reason to suggest this therapy for CMT1A neuropathy.

Based on positive results in an animal model of CMT1A, three trials with

ascorbic acid (AA) were completed in a large number of patients with this

neuropathy, with results that were negative overall.

Therefore, it is not possible to recommend the use of AA in CMT1A patients at

this time, but the results of a larger Italian-UK study and an American trial

with higher doses of AA are still awaited. It is important to remember that a

superimposed inflammatory/disimmune process may complicate the course of the

neuropathy; in this case, severe worsening (especially motor) in a matter of

weeks or months is a " red flag " that should suggest immunosuppressive or

immunomodulatory treatment such as steroids, intravenous immunoglobulin, or

plasma exchange.

In fact, steroid-sensitive cases of HMSN were described many years ago, well

before the genetic diagnosis was available. Symptomatic treatment to reduce

neuropathic and nociceptive pain, both of which have been reported in patients

affected by CMT, should be prescribed according to recently published guidelines

for the therapy of pain. No evidence suggests any specific surgical intervention

or change in diet or lifestyle for patients affected by various types of CMT.