Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note.

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• Limb-girdle muscular dystrophy type 2B (LGMD2B), a dysferlinopathy, results from mutations in the dysferlin gene.
• Typical onset is in the second or third decade, with pelvic and shoulder girdle muscle weakness and elevated creatine kinase (CK).

Observation:

• A Chinese patient presented with late-onset LGMD2B at age 50.
• Initial symptoms included persistent elevated transaminases for 3 years, leading to misdiagnosis of liver disease, followed by polymyositis.
• Muscle biopsy revealed dystrophic changes and dysferlin depletion.

Findings:

• This case demonstrates a rare late-onset presentation of dysferlinopathy.
• Delayed diagnosis occurred due to initial symptoms mimicking common liver and inflammatory muscle conditions.

Implications:

• Clinicians should consider dysferlinopathy in older patients with unexplained muscle weakness and elevated liver enzymes or CK.
• Early recognition and genetic testing are crucial for accurate diagnosis and management of late-onset dysferlinopathies.