Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

ABSTRACT:

Background

Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.

Case presentation

We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the poster

SUBMITTER: Bardakov SN 

PROVIDER: S-EPMC10870593 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature