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Calf myopathy with a twist

¹Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna, Italy.

Neuromuscular Disorders : NMD

|January 1, 1994

Summary

Identifying manifesting Duchenne carriers requires careful evaluation beyond traditional criteria. This case highlights the diagnostic challenges posed by variable female Duchenne variant presentations.

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Area of Science:

Neurology
Genetics
Muscular Dystrophy

Background:

Traditional criteria for identifying manifesting Duchenne carriers include family history, proximal limb weakness, calf hypertrophy, and elevated serum creatine kinase.
Duchenne muscular dystrophy is a genetic disorder primarily affecting males, but females can be carriers and sometimes exhibit symptoms.

Observation:

A 52-year-old woman presented with progressive left calf weakness and atrophy over 1.5 years, along with significantly elevated serum creatine kinase.
Despite clinically unaffected quadriceps muscles, imaging (ultrasound, CT) and biopsy revealed mild abnormalities.
Dystrophin immunostaining also showed some abnormalities, suggesting carrier status.

Findings:

The patient's presentation, including subclinical muscle changes and abnormal dystrophin staining, indicated she was a manifesting carrier of the dystrophin gene.
Her symptoms deviated from typical carrier presentations, underscoring the wide spectrum of Duchenne variant manifestations in females.

Implications:

This case emphasizes the need for a broader diagnostic approach in females with suspected muscular weakness and elevated creatine kinase.
Clinicians must consider manifesting Duchenne carriers, even with atypical or subtle symptoms, due to the significant variability in disease expression.
Early and accurate diagnosis is crucial for genetic counseling and potential future therapeutic interventions for Duchenne muscular dystrophy.

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