[Association of dystrophinopathy with facial-scapular-humeral dystrophy in the same family].
We present the association of a distrophinopathy with a case of facioscupulohumeral dystrophy in two individuals belonging to the same family. The discrepancy in the seric creatinphosphokinase (CPK) of the two patients together with certain clinical data suggests the possibility that it is a question of two different processes. This impression was confirmed later through dystrophine analysis and genetic examination techniques. This case drew attention to the vital need today to insist on a combination of genetic examinations and dystrophine analysis when diagnosing muscular dystrophies, thus avoiding mistakes derived from diagnostic assumptions made on the basis of antecedents in the family involving neuromuscular disorders and the consequences that this might have regarding vital prognosis and advice to the family. This is the first case of coincidental association of these two processes within one family that has so far come to our knowledge.
D000911:Antibodies, Monoclonal; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000032:analysis* / Q000097:blood; D005145:Face / Q000503:physiopathology*; D006801:Humans; D006811:Humerus / Q000503:physiopathology*; D008297:Male; D009132:Muscles / Q000737:chemistry* / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000097:blood / Q000235:genetics* / Q000503:physiopathology*; D012540:Scapula / Q000503:physiopathology*; D014960:X Chromosome
D000911:Antibodies, Monoclonal; D016189:Dystrophin; D003402:Creatine Kinase
Asociación de distrofinopatía y distrofia facio-escápulo-humeral en una misma familia.