Key Points
- To describe the clinical variability and genealogical features of muscular dystrophy within a large consanguineous pedigree presenting with two distinct phenotypes.
- Genealogical and clinical evaluation of a large consanguineous family with 23 individuals affected by muscular dystrophy.
- Computed tomography of skeletal muscles to assess the spatial distribution and degree of fatty degeneration.
- A classical limb-girdle muscular dystrophy phenotype presented in the first decade with proximal muscle weakness, progressing to wheelchair confinement within 20 years.
- A distal phenotype presented in the third or fourth decade with tibial muscle wasting and very slow progression without severe disability.
- Skeletal muscle computed tomography in the distal variant showed novel focal fatty degeneration across truncal, pelvifemoral, and distal leg muscles despite genealogical evidence suggesting a common genetic origin.
Structured PICO
PPopulation23 patients from a large consanguineous family with muscular dystrophy
OOutcomeClinical phenotypes and disease progression
This report highlights significant intrafamilial phenotypic variation in muscular dystrophy, suggesting that distinct clinical presentations may arise from a common genetic background.