Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
Sergey N Bardakov1, Angelina A Titova2, Sergey S Nikitin3
1Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia. epistaxis@mail.ru.
BMC Musculoskeletal Disorders
|February 16, 2024
Summary
Dysferlinopathy, a genetic muscle disorder, can present with rare rigid spine syndrome and early contractures. This case highlights a Miyoshi myopathy variant, expanding understanding of the disease's spectrum.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Dysferlinopathy encompasses hereditary muscle diseases stemming from DYSF gene mutations.
- Early contractures and rigid spine syndrome are infrequent manifestations.
Observation:
- A 23-year-old with Miyoshi myopathy presented with rigid spine and multiple contractures.
- Symptoms began at age 13 with calf muscle fatigue, progressing to joint and spine involvement.
- MRI showed muscle degeneration and edema; genetic testing confirmed DYSF mutations with absent dysferlin protein.
Findings:
- The patient exhibited a rare, severe phenotype of dysferlinopathy with early-onset contractures and rigid spine.
- Genetic analysis identified known DYSF mutations, leading to a complete lack of dysferlin protein.
Implications:
- This case broadens the known clinical spectrum of dysferlinopathy.
- It aids in diagnosing patients presenting with unexplained spine rigidity and contractures.
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