The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy.
A patient with both Charcot-Marie-Tooth (type la) 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.
Bütefisch
C M
CM
Department of Neurology, West Virginia University Hospital, Morgantown 26505, USA.
Lang
D F
DF
Gutmann
L
L
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree