Diagnostic challenges in facioscapulohumeral muscular dystrophy
Copyright policy )Diagnostic challenges in facioscapulohumeral muscular dystrophy
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.
- University of Padua Italy
- French Institute of Health and Medical Research France
- Leiden University Medical Center Netherlands
Adult, Male, Polymorphism, Genetic, Gene Dosage, Mitochondrial Myopathies, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Diagnosis, Differential, Muscular Dystrophies, Limb-Girdle, Tandem Repeat Sequences, Mutation, Humans, Chromosomes, Human, Pair 4, Diagnostic Errors, Alleles, Gene Deletion, Aged
Adult, Male, Polymorphism, Genetic, Gene Dosage, Mitochondrial Myopathies, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Diagnosis, Differential, Muscular Dystrophies, Limb-Girdle, Tandem Repeat Sequences, Mutation, Humans, Chromosomes, Human, Pair 4, Diagnostic Errors, Alleles, Gene Deletion, Aged
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