![]() This classification system described other hereditary sensory and sensory-autonomic neuropathies, but did not include other primary inherited neuropathies such as hereditary neuropathy with pressure palsy and giant axonal neuropathy. 1, 2 These distinctions rely on electrodiagnostic findings of either nerve conduction slowing, representing demyelinating disease, or decreased compound muscle action potential (CMAP) amplitudes, representing axonal injury, as well as the presence of other clinical features. Classification of the various types of CMT was originally described by Dyck et al in 1975 and employed the term “hereditary motor and sensory neuropathy types I–VII”, also referred to CMT types 1–7. ![]() While neurologic examination, electrodiagnostic techniques, and genetic testing yield diagnostic and prognostic information, a multidisciplinary supportive care team is critical to improve the quality of life (QoL) in patients for this still incurable disease.Ĭlassification, epidemiology, and geneticsĬMT classically refers to inherited motor and sensory neuropathies with a wide range of genotypes and phenotypes. It is broadly classified as demyelinating or an axonal form, though intermediate forms exist, each with specific histopathologic, electrodiagnostic, and genetic features. It progresses in a length-dependent fashion eventually affecting the hands, but its clinical phenotype can range from mild functional limitations to severe complicated diseases. CMT is a disorder that most commonly causes progressive distal to proximal weakness and associated atrophy as well as sensory deficits, usually affecting the feet and legs at onset. Keywords: rehabilitation, genetic diagnosis, patient quality of life, inherited neuropathies, hereditary motor and sensory neuropathies, longitudinal careĬharcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy, and with an estimated prevalence of one in 2,500, one of the most common inherited diseases in humans. These developments will continue to guide strategies in long-term multidisciplinary efforts to maintain quality of life and preserve functionality in CMT patients. These include the development of large multicenter patient registries, standardized clinical instruments to assess disease progression and disability, and increasing recognition and use of patient-reported outcome measures. In this review, we discuss several important trends in CMT research factors that will require a collaborative multidisciplinary approach. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. ![]() Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Donald McCorquodale, Evan M Pucillo, Nicholas E Johnsonĭepartment of Neurology, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, USAĪbstract: Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans.
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |