Charcot Marie Tooth disease (CMT) and related disorders refer to a heterogeneous group of disorders both clinically and genetically with over a 100 causative genes described to date.
The axonal forms of CMT (CMT2) are rarer than those primarily affecting myelin (CMT1 and CMT4) but there are many more causative genes for CMT2. CMT traditionally refers to a motor and sensory neuropathy but the axonal forms also include pure or predominant motor forms (Hereditary motor neuropathy (HMN)) and pure or predominant sensory forms (Hereditary sensory neuropathy (HSN)). HSN is discussed elsewhere in this course but all other forms of CMT2 and HMN will be discussed. Intermediate CMT refers to those types that have intermediate motor conduction velocities and many of the causative genes code for proteins involved in axonal function. The clinical presentations, diagnostic pathways including the use of next generation sequencing, treatments and update on research into causes and treatments will be presented. Clinical cases will be used to illustrate individual genetic subtypes.
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