Muscular Dystrophy and Myopathies: Diagnosis and Investigations

Muscular dystrophy and myopathies are a group of disorders characterized by progressive muscle weakness and dysfunction. These conditions can significantly impact an individual's mobility and quality of life.

Diagnosis and Investigations

Accurate diagnosis is crucial for appropriate management of these conditions. Various diagnostic modalities are used to assess muscle function and identify underlying pathologies.

Clinical Evaluation

• Detailed patient history
• Physical examination focusing on muscle strength and tone
• Family history of muscular disorders

Laboratory Tests

• Serum Creatine Kinase (CK) Levels – Elevated CK indicates muscle damage
• Genetic Testing – Helps identify specific mutations
• Electromyography (EMG) – Evaluates muscle electrical activity

Imaging Studies

• Magnetic Resonance Imaging (MRI) – Assesses muscle structure
• Ultrasound – Helps visualize muscle abnormalities

Muscle Biopsy

Histopathological examination of muscle tissue is performed to differentiate between dystrophies and other myopathies.

Future Perspectives

Advancements in gene therapy and precision medicine offer promising avenues for treatment. Ongoing research aims to develop targeted interventions to halt disease progression.