Causes of Nemaline Myopathy
The disease is caused by mutations in genes that produce muscle protein, affecting the structure and function of skeletal muscles.
Symptoms of Nemaline Myopathy
There is a wide range of severity in symptoms, including:
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There is weakness in the muscles of the face, neck, and limbs
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Development of the motor system is delayed
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Feeding or swallowing difficulties
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Issues related to the respiratory system
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Deformities of the face and limbs
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Muscle atrophy (hypotonia)
Diagnosis of Nemaline Myopathy
Diagnosis involves:
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A clinical evaluation and a family history are conducted
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A muscle biopsy revealed nemaline rods in the fibers of the muscle
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Identifying mutations through genetic testing
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Assessing muscle function with electromyography (EMG)
Treatment of Nemaline Myopathy
Symptoms are managed through treatment:
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Strengthening and improving mobility through physical therapy and occupational therapy
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Support for breathing difficulties
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Support for feeding difficulties through nutrition
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Skeletal deformity orthopedic interventions
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Monitoring respiratory function on a regular basis
Prevention of Nemaline Myopathy
As a result of its genetic nature, prevention is not possible. However, early diagnosis and management can improve quality of life. Genetic counseling is recommended for affected families to help them understand inheritance patterns and risks.
Nemaline myopathy is described in this overview, including its causes, symptoms, diagnostic methods, treatment options, and prevention measures.
