Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.

ABSTRACT: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness. Genetic testing showed that the number of D4Z4 repeat units in the sub-terminal region 4qA of chromosome 4q35 in the proband was only 4 (normal value ≥ 11) and, at the same time, a heterozygous deletion was found in exons 13-29 of DMD gene in the proband, thus the diagnosis was clinically and genetically compatible with both FSHD1 and BMD. Pedigree investigation

SUBMITTER: Tan M 

PROVIDER: S-EPMC11747468 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature