𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The devastating combination of Charcot–Marie–Tooth disease and facioscapulohumeral muscular dystrophy

✍ Scribed by Cathrin M. Bütefisch; David F. Lang; Ludwig Gutmann


Book ID
101250637
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
285 KB
Volume
21
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

✦ Synopsis


A patient with both Charcot-Marie-Tooth (type 1a) disease and facioscapulohumeral muscular dystrophy inherited these from her father and mother, respectively. Either disease alone does not significantly alter life expectancy, but the unusual combination of these two disease processes was devastating and resulted in severe generalized weakness and early death.


📜 SIMILAR VOLUMES


Myasthenia gravis and Charcot-Marie-Toot
✍ Chiung-Mei Chen; Hong-Shiu Chang; Rong-Kuo Lyu; Lok-Ming Tang; Sien-Tsong Chen 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

Concurrence of myasthenia gravis (MG) and Charcot-Marie-Tooth type 1 (CMT1A) neuropathy is rare. We describe a 60-year-old woman with MG and genetically proved CMT1A. The fluctuating ocular symptoms and proximal limb weakness were markedly improved by pyridostigmine treatment. Recognition of the pos