Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case...

Area of Science:

• Neuromuscular Disorders
• Clinical Genetics
• Molecular Diagnostics

Background:

• Limb-girdle muscular dystrophies (LGMDs) encompass over 30 subtypes, presenting with progressive proximal muscle weakness and overlapping phenotypes.
• Accurate subtyping is essential for effective management and therapeutic strategies.

Observation:

• A 59-year-old male experienced progressive muscle weakness starting in his late twenties, leading to wheelchair dependence by age 55.
• Clinical presentation included upper extremity weakness, waddling gait, hyperlordosis, and anterior pelvic tilt.

Findings:

• Next-generation sequencing identified compound heterozygous mutations in the DYSF gene (NM_003494.3:c.1663C>T, p.Arg555Trp and NM_003494.3:c.2997G>T, p.Trp999Cys), diagnosing LGMD type 2B.
• Despite physical and occupational therapy, the patient's muscle weakness continued to progress.

Implications:

• Gene panel sequencing facilitates precise LGMD subtype recognition, enabling timely and appropriate patient management.
• Accurate molecular diagnosis is vital for enrolling patients in targeted clinical trials and advancing research.