[Muscular disorders: unusual or focal presentations]

Area of Science:

• Neurology
• Clinical Medicine
• Genetics

Background:

• Diagnosis of muscular disorders relies heavily on clinical assessment, despite advances in complementary investigations.
• Myopathies exhibit a wide spectrum of clinical presentations, often including unusual or atypical features.
• These atypical manifestations can lead to misdiagnosis and delayed management.

Purpose of the Study:

• To review the primary atypical clinical features observed in myopathies.
• To highlight the importance of recognizing clinical variability in diagnosing muscular disorders.
• To discuss the potential causes associated with these atypical presentations.

Main Methods:

• Literature review of studies on myopathy clinical features.
• Analysis of case reports detailing atypical myopathy presentations.
• Synthesis of information on the diagnostic challenges posed by clinical variability.

Main Results:

• Identified key atypical features including myotonia, periodic paralysis, respiratory failure, dysphagia, ptosis, ophthalmoplegia, camptocormia, and asymmetric/distal weakness.
• Emphasized that these varied symptoms can obscure the correct diagnosis.
• Highlighted the need for physician awareness of this clinical heterogeneity.

Conclusions:

• Physicians must be aware of the diverse clinical manifestations of myopathies.
• Recognizing atypical symptoms is essential for accurate and timely diagnosis.
• Early diagnosis facilitates the implementation of effective interventional management strategies for muscular disorders.