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Atypical facio‐scapulo‐humeral muscular dystrophy — a counselling dilemma
Author(s) -
Reardon W.,
Temple I. K.,
Harwood G.,
Baraitser M.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03007.x
Subject(s) - muscular dystrophy , genetic counseling , medicine , muscular fatigue , genetics , biology , physical medicine and rehabilitation
In an isolated male patient, differentiation between Facio‐Scapulo‐Humeral Muscular Dystrophy (FSH) and Becker Muscular Dystrophy (BMD) may be difficult. To emphasise this point, we report a patient, whose features are atypical of FSH. Details of his daughter who now manifests similar presenting features, are provided. The pitfalls posed for the genetic counsellor by FSH presenting in an atypical manner which clinically overlaps with genetically distinct conditions are discussed in the light of this pedigree.