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Movement disorders
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
v – Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is also known as hereditary motor and sensory neuropathy. It has a prevalence of 1 in 2500, making it one of the commonest inherited neurological diseases (usually autosomal dominant, although X-linked and recessive variants do exist). The usual symptoms include a progressive distal weakness of muscles and atrophy (hence the description ‘inverted champagne bottles’), high-arched foot deformities, distal sensory loss and hyporeflexia.1
Classification of Neuropathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Axonal neuropathy is subcategorized into acquired and hereditary spectrums. The most common cause of acquired axonal neuropathy is long-standing uncontrolled diabetes (see Chapter 30). Although hereditary conditions are rare, Charcot–Marie–Tooth disease (CMTD) is considered at the top of the differential diagnosis.
Musculoskeletal disorders and connective tissue disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Charcot-Marie-Tooth disease encompasses a group of disorders that affect the nerves which lie outside the brain and spinal cord (the peripheral nerves), and which control many of the muscles in the body. When these nerves are affected, this leads to muscle weakness and the wasting away of tissue, mainly in the legs. ‘Charcot-Marie-Tooth’ comes from the names of the three doctors (two French, one English) who first described the condition in the 1880s.
Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease
Published in Physiotherapy Theory and Practice, 2021
Cyntia Rogean De Baptista, Adriana H. Nascimento-Elias, Beatriz Garcia, Amanda Testa, Paula Calori Domingues, Edson Zangiacomi Martinez, Wilson Marques Jr, Ana Claudia Mattiello-Sverzut
Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neuropathy, with sensory and motor manifestations, that progresses slowly and affects the peripheral nervous system (Braathen et al., 2011; Cornett et al., 2016; Pareyson and Marchesi, 2009; Pareyson, Saveri, and Pisciotta, 2017). The main signs and symptoms appear, primarily, in the first two decades of life. The typical phenotype includes distal weakness, muscle atrophy, loss of tactile and proprioceptive sensitivity, absence of reflexes, and presence of distal deformities, mainly pes cavus (Laurá et al., 2018; Pareyson and Marchesi, 2009; Piscosquito et al, 2015).