Details

Autor(en) / Beteiligte

• Durdu, Senay
• Koc, Kadriye
• Balaban, Deniz
• Karaoglu, Aynur

Titel

Charcot-Marie-Tooth disease type 2B/Charcot-Marie-Tooth hastaligi tip 2B

Ist Teil von

• Türkderm, 2009-06, p.65

Ort / Verlag

Galenos Yayinevi Tic. Ltd

Erscheinungsjahr

2009

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Chatcot-Marie-Tooth (CMT) is also known as peroneal muscular atrophy and hereditary motor-sensory neuropathy (HMSN). It is the most commonly encountered inherited peripheral neuropathy. Actually, CMT is not a single disease, but is a group of disorders with similar symptoms. CMT type 2 is the second most common form after CMT type1. Symptoms usually begin in childhood or early adulthood. Mostly the peripheral nerves of the lower extremities and occasionaly upper extremities may be affected. Motor nerve involvoment induces distal muscle weakness and atrophy in the lower extremities that may result in foot deformities known as foot drop, pes cavus, pes planus, hammer toe etc. As a result of sensorial nevre degeneration, callus, recurrent foot ulcers, osteonecrosis, osteolysis and spontaneous amputation may accompany the disease. The speed of nerve conduction is not changed in the EMG, but axonal type sensorymotor semptoms that lead to a decrease of amplitude. We report here a 55 year old man with recurrent foot ulcers for 33 years and self amputations, whose EMG findings suggest acsonal neuropathy and who also has a 20 year - old son with similar complaints. (Turkderm 2009, 43: 65-7) Key Words: Hereditary neuropathy, Charcot-Marie-Tooth Charcot-Marie-Tooth (CMT); peroneal muskuler atrofi, herediter motor ve duyusal noropati (HMSN) diye de bilinir. Genetik gecisli periferik noropatilerin en yaygin olanidir. CMT aslinda tek bir hastalik olmayip klinik belirtileri kabaca birbirine benzer bir hastalik grubudur. Bu grup icinde CMT tip 1 den sonra gordme sikligi en yiksek olan CMT tip 2 dir. Belirtiler siklikla cocukluk ve gencl ik caginda baslar. En sik alt ekstremitelerin periferik sinirleri etkilenmekle birlikte Cist ekstremiteler de etkilenebilir. Alt ekstremite kaslarinda guc kaybi ve atrofi nedeni ile dusik ayak, pes kavus, pes planus, cekic parmak gibi cesitli ayak deformiteleri gorul Cr. Bunun yanisira duyusal sinirlerin dejenerasyonuna bagli olarak kallus tarzinda olusumlar, tekrarlayan ayak ulserleri, osteonekroz, osteoliz ve spontan amputasyonlar tabloya eslik edebilir. EMG de sinir ileti hizinin degismedigi, ancak amplitutte azalmaya yol acan aksonal tip sensoriomotor noropati bulgulan saptanir. Biz burada 55 yasinda, yaklasik 33 yildir tekrarlayici ayak c1serleri ve self amputasyonlari olan, EMG bulgusu aksonal noropatiye uyan, 20 yasindaki oglunda da benzer sikayetler bulunan bir olguyu sunmaktayiz. (Turkderm 2009, 43: 65-7) Anahtar Kelimeler: Herediter noropati, Charcot-Marie-Tooth Summary