Advances in Molecular Analysis of Muscular Dystrophies

Ankala, Arunkanth; Hegde, Madhuri

doi:10.5772/31578

Muscular Dystrophy 2012

DOI: 10.5772/31578

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Advances in Molecular Analysis of Muscular Dystrophies

Arunkanth Ankala¹,

Madhuri Hegde²

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2024

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A rare case of limb girdle muscular dystrophy with predominant scapulo-humeral involvement: diagnostic challenges and multidisciplinary management in a middle-aged male

Orchi,

Susmita,

Eskander

et al. 2024

Int J Sci Rep

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Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of neuromuscular disorders characterized by progressive proximal muscle weakness and varying patterns of scapular winging. Accurate subtype identification is often hindered by diagnostic complexities and limited access to advanced diagnostic tools, particularly in resource-constrained settings. We present the case of a 38-year-old male with a 10-year history of progressive upper limb weakness, scapular winging, and persistent fatigue. Electromyography (EMG) revealed a myopathic pattern, supporting the clinical suspicion of LGMD. Muscle biopsy and genetic testing were not performed due to patient unwillingness and financial limitations. A multidisciplinary management approach comprising low-dose corticosteroids, physiotherapy, and nutritional support led to symptomatic improvement and enhanced functional capabilities. This case underscores the diagnostic challenges posed by the absence of advanced genetic and histopathological investigations and highlights the importance of accessible, patient-centered care. Scapular winging and proximal weakness were pivotal diagnostic features in this case, reflecting the hallmark manifestations of LGMD. The observed improvement with physiotherapy and corticosteroids demonstrates the value of a tailored management strategy in mitigating the impact of this progressive condition. This case emphasizes the need for broader access to diagnostic innovations and advanced therapeutic options to optimize care for patients with rare neuromuscular disorders.

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A rare case of limb girdle muscular dystrophy with predominant scapulo-humeral involvement: diagnostic challenges and multidisciplinary management in a middle-aged male

Orchi,

Susmita,

Eskander

et al. 2024

Int J Sci Rep

View full text Add to dashboard Cite

show abstract

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Advances in Molecular Analysis of Muscular Dystrophies

Cited by 1 publication

References 48 publications

A rare case of limb girdle muscular dystrophy with predominant scapulo-humeral involvement: diagnostic challenges and multidisciplinary management in a middle-aged male

A rare case of limb girdle muscular dystrophy with predominant scapulo-humeral involvement: diagnostic challenges and multidisciplinary management in a middle-aged male

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