Charcot-Marie-Tooth disease: A Case Report

Dr. Snehal S. Jagtap; Dr. Harish  Jadhav; Dr. Suresh  Waydande; Prof. Dr. Sunil Natha  Mhaske; Dr. Abhijit  Shinde; Dr. Sushrut Kumar

doi:10.46858/vimshsj/9405

Authors

Dr. Snehal S. Jagtap Department of Paediatrics, DVVPFs Medical College & Hospital, Ahmednagar-414111, Maharashtra, India
Dr. Harish Jadhav
Dr. Suresh Waydande
Prof. Dr. Sunil Natha Mhaske
Dr. Abhijit Shinde
Dr. Sushrut Kumar

DOI:

https://doi.org/10.46858/vimshsj/9405

Keywords:

Charcot-Marie Tooth, Hereditary neuropathies, HMSN, Demyelinating disorder, PRX gene

Abstract

Charcot-Marie-Tooth (CMT) disease is one of the most common genetically inherited neuromuscular disorder causing peripheral neuropathies. More than 60 different gene mutations are causing this disease and affecting approximately 1 in every 2500 people. We report a case of previously healthy 14-year-old male presented to the OPD with progressive walking difficulty since 4 years of age. Electromyography showed senori-motor axonal peripheral neuropathy compatible with CMT type 2. Patients with Charcot Marie Tooth should invariably be part of an ongoing multidisciplinary plan of care in regards to their functional impairments.

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References

Szigeti K, Lupski JR. Charcot–marie–tooth disease. European Journal of Human Genetics. 2009 Jun;17(6):703-10.

Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. The Lancet Neurology. 2009 Jul 1;8(7):654-67.

Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Neurological dysfunction and axonal degeneration in Charcot–Marie–Tooth disease type 1A. Brain. 2000 Jul 1;123(7):1516-27.

Guilbot A, Williams A, Ravise? N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Me?garbane? A. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease. Human molecular genetics. 2001 Feb 15;10(4):415-22.

Datta S, Kataria S, Govindarajan R. A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation. Cureus. 2019 Jul 9;11(7).

Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron. 2000 May 1;26(2):523-31.

Saporta MA. Charcot-Marie-Tooth disease and other inherited neuropathies. CONTINUUM: Lifelong Learning in Neurology. 2014 Oct 1;20(5):1208-25.

Schmalbruch H, Haase G. Spinal muscular atrophy: present state. Brain pathology. 2001 Apr;11(2):231-47.

Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell. 1998 Nov 25;95(5):615-24.

Laghi F, Tobin MJ. Disorders of the respiratory muscles. American journal of respiratory and critical care medicine. 2003 Jul 1;168(1):10-48.

Mandel J, Bertrand V, Lehert P, Attarian S, Magy L, Micallef J, Chumakov I, Scart-Grès C, Guedj M, Cohen D. A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment. Orphanet Journal of Rare Diseases. 2015 Dec;10(1):1-4.