Asymptomatic Sporadic Dysferlinopathy Presenting with Elevation of Serum Creatine Kinase. Typical Distribution of Muscle Involvement Shown by MRI but not by CT

Abstract

We report an 18-year-old

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy

“…The surprising finding from our study was the high frequency of muscle edema. Prior studies identified edema changes by means of MRI in a few dysferlinopathy cases . However, studies with large numbers of patients are limited, and the frequency of edema has varied greatly.…”

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

“…Atypical patients who showed LGMD -Limb girdle muscular dystrophy, DACM -Distal anterior compartment myopathy. *Novel mutation, † Mutation is predicted as nonpathogenic using UMD predictor, ‡ Bioinformatics analyses predict no deleterious effect of the mutation, Gardner-Medwin and Walton scales: grade 0 -subclinical, hyperCKemia, and tolerance of normal activities, grade 1 -normal gait, unable to run freely, grade 2 -abnormal gait, grade 3 -muscle weakness, climbing stairs with support, grade 4 -positive Gower sign, grade 5 -unable to rise from floor, grade 6 -unable to climb stairs, grade 7 -unable to get up from chairs, grade 8 -unable to walk independently, grade 9 -unable to eat, drink, or sit without support, Disease progression was evaluated using three grades: S -slow progression, only 1 grade change during the past 5 years, M -moderate progression, 2 grade changes during the past 5 years R -rapid progression, 3 or more grade changes during the past 5 years exercise intolerance or asymptomatic hyper CPKemia without muscle weakness were reported before, [3,13,14] and they may be misdiagnosed as metabolic myopathy. However, the CPK level was constantly very high in patients with dysferlinopathies, while it was fluctuating in patients with metabolic myopathies.…”

Progress and challenges in diagnosis of dysferlinopathy

“…) in the distal lower legs (gastrocnemius), or in the proximal thigh muscles (adductor magnus), followed by fatty degeneration . In an 18‐year‐old man with asymptomatic hyperCKemia, dysferlinopathy was diagnosed by the observation of muscle edema by MRI, while no change was found by CT scan …”