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All Diseases > Inherited Neuropathies
Inherited Neuropathies (Inherited Neuropathy)
Alternative Names: Charcot Marie Tooth Disease (CMT)
Disease Category: Inherited Neuropathies
Charcot Marie Tooth (CMT) Disease is an inherited peripheral neuropathy. Inherited means that something can be passed on from generation to generation. Neuropathy means that there is a problem with the nerves. Peripheral refers to the peripheral nervous system, which is all of the nerves that branch from the central nervous system (brain and spinal cord) and travel to the feet and hands - the periphery of the body. People with CMT usually have problems with their feet and hands, including feet deformity (high arches and hammertoes), foot drop, abnormal sensations (and loss of fine motor skills. Not everyone with CMT is affected in the same way. Some patients have mild neuropathy, while others may have more severe problems with walking, hands, and/or sensation
Research groups studying this disease
Inherited Neuropathy Consortium (INC)View Disease Definition
6601: Natural History Evaluation of Charcot Marie Tooth Disease
A lack of high quality natural history data, based on a uniform, quantitative evaluation of patients continues to hinder the efforts to perform clinical trials for most forms of CMT. This study aims to determine the natural history of CMT1B, CMT2A, CMT4A, CMT4C, and other types of CMT in order to refine the overall picture of disease for use in future clinical trials.
6602: Genetics of CMT- Modifiers of CMT1A, New Causes of CMT
Despite great success of gene identification in CMT, there is still much more genetic heterogeneity to uncover. In addition, modifying factors are an important aspect of CMT, but have been rarely studied in a systematic fashion. This study will apply innovative study designs and the latest technology to tackle some of the most pressing genetic issues in CMT, ultimately paving the way for new therapeutic approaches. This study aims to determine if gene modifiers exist for CMT1A, and to find new genetic causes of CMT.
6603: Development of CMT Peds Scale for Children with CMT
It is likely that progression also varies during different pediatric age groups for different forms of CMT. However, there are no large-scale epidemiological data available for the genetic distribution or natural history of inherited neuropathies in the pediatric age group. This study aims to develop and test the CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials. This study involves designing a pediatric scale(s) to measure impairment in children with CMT and to test the scale’s ability to measure disease progression in patients.
6611: Charcot-Marie-Tooth disease Infant Scale
No CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. This is an important omission since future clinical interventions may be most effective in slowing disease progression if given early in life.The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children ≤3 years of age (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Charcot Marie Tooth Association
Funds Charcot-Marie-Tooth (CMT) research and works to improve quality of life for all CMT patients.
ACMT-Rete per la malattia di Charcot-Marie-Tooth
Supports Charcot-Marie-Tooth patients and their families with dedicated actions and research to increase awareness and quality of life.
Supports people living with Charcot-Marie-Tooth disease in the United Kingdom by providing personal support, advice, and information.
Hereditary Neuropathy Foundation
Works to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families, and fund research.
Muscular Dystrophy Association
Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.
CMT Research Foundation
This patient-led, non-profit foundation is focused exclusively on addressing treatments and cures for Charcot-Marie-Tooth disease.
Founded in 1990, Fondazione Telethon conducts fund raising activities to support research projects that aim to advance the treatment of rare genetic diseases.