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PubMed Central
Article . 2025
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Cureus
Article . 2025 . Peer-reviewed
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Cureus
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A Late-Onset Presentation of Miyoshi Myopathy: A Case Report

Authors: Ansari, Ubaid; Dua, Aakriti; Aneja, Esha; Amani, Noorhan; Muttalib, Zohaer; Lui, Forshing; Chima, Biljinder S;

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report

Abstract

Miyoshi myopathy is a muscular dystrophy disease characterized by muscle weakness and atrophy generally in distal muscle groups, such as in the legs and arms. Miyoshi myopathy is thought to occur due to genetic mutations in the DYSF gene, which codes for the dysferlin protein, which is critical for muscle cell membrane integrity and muscle fiber adhesiveness. The first symptoms begin in early adulthood and include weakness and atrophy in the calves, gait abnormalities, pain and discomfort in affected muscles, and difficulty jumping or walking on tiptoes. Patients generally are diagnosed by a combination of physical exam findings, genetic testing, muscle biopsy, and elevated creatinine kinase (CK) levels. Management of the disease progression includes physical therapy to strengthen the muscles, nutritional support, occupational therapy, and assisted device education. While not life-threatening, Miyoshi myopathy outlook is generally considered moderate to poor due to significant muscle weakness and eventual loss of mobility usually in 10-20 years after onset. We present a unique case of a 66-year-old male patient complaining of pain in his bilateral calves after having had a series of back surgeries 10 years prior. A diagnosis of Miyoshi myopathy, a rare occurrence in this age group, was made based on CK levels. In this report, we will discuss the pathophysiology, disease progression, and management of Miyoshi myopathy.

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Neurology

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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