Therapeutic options in Charcot–Marie–Tooth diseases

Abstract

Charcot–Marie–Tooth (CMT) diseases represent a heterogeneous genetic disorder (more than 80 genes are implicated in these inherited neuropathies), but sharing a similar phenotype. In recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of CMT, have led to a better understanding. Taken together, this knowledge represents a prerequisite for the development of future therapies in CMT, and in peripheral nervous system disorders in general. The efficacy of various substances has been shown in vitro and also in vivo (in animal models); but, no significant positive effect has yet been confirmed in humans. However, some of these trials are still in development, and we may expect positive results in the future. Although CMT is still an incurable disease, symptomatic treatments (physiotherapy, surgery, analgesic, etc.) are crucial to improve the quality of life of CMT patients.

Keywords:

• animal model
• Charcot–Marie–Tooth disease
• CMT
• dHMN
• GJB1
• MPZ
• myelin
• PMP22

Acknowledgements

The authors wish to thank D Cohen for reviewing the manuscript.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Key issues

• Charcot–Marie–Tooth (CMT) is the most common inherited neuropathy.

• The common phenotype of all types of CMT is characterized by wasting and weakness of distal limb muscles (usually associated with distal sensory loss, pes cavus and decrease or absence of deep tendon reflexes).

• More than 80 genes are known to be associated with both CMT and distal hereditary motor neuropathy.

• Some murine models of CMT have been developed in order to better understand the disease.

• CMT is still not curable, but symptomatic therapies (physiotherapy, surgery and analgesics) are needed to improve the quality of life of these patients.

• Several therapeutic strategies are under study in the development of future treatments.

Notes