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Extremity Pain in a Patient with Diffuse Muscle Weakness: A Clinical Picture Orchestrated by Two Uncommon Mutations

Year: 2026

Type: article

Abstract: ABS TRACT This case report presents a 36-year-old female presenting with burning lower extremity pain, proximal muscle weakness, and imbalance.Her clinical examination revealed diffuse proximal weakness, with mild distal involvement, and left ptosis.Routine laboratory and imaging results were unremarkable, and electromyography showed mild diffuse myopathic involvement.Muscle biopsy demonstrated non-inflammatory myopathy with Type 1 fiber predominance and Type 2 atrophy.Using next-generation sequencing, we identified a novel heterozygous SCN9A c.1941+8T>C variant, classified as likely pathogenic and associated with paroxysmal extreme pain disorder, and a heterozygous TPM3 c.737C>T (p.Ser246Leu) variant, consistent with congenital fiber-type disproportion myopathy.The management of the case consisted of physical therapy and analgesics.This case highlights the importance of integrating genetic testing with histopathological evaluation in atypical neuromuscular presentations.

Source: Fiziksel Tıp ve Rehabilitasyon Bilimleri Dergisi

DOI: 10.31609/jpmrs.2025-112349

Authors: Göksel TANIGÖR, Murat Yıldırım KALE, Berk ÖZYILMAZ, Gülden DİNİZ

Institutions: Sağlık Bilimleri Üniversitesi, Izmir Tepecik Eğitim ve Araştırma Hastanesi, Bakırçay Üniversitesi, İzmir Demokrasi Üniversitesi

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7122359581

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