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
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✦ 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
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