Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait.

ABSTRACT:

Background and objectives

Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics of lower limbs in limb girdle muscular dystrophy (LGMD)-R2 phenotypes and correlate them with the gait pattern.

Methods

Forty genetically and/or biopsy-proven cases of dysferlinopathy underwent muscle MRI of the lower limbs. The pattern and extent of fatty infiltration and edema were recorded. Spearman's correlation analysis was used to find the correlation between muscle involvement and demographics, duration of illness, Muscular Dystrophy Functional Rating Scale (MDFRS), genotype, and gait pattern.

Results

Mean age at onset and duration of illness at evaluation were 21.5 ± 6.3 yea

SUBMITTER: Chawla T 

PROVIDER: S-EPMC12049224 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature