What is it?

Congenital myopathy is a rare genetic condition results with muscle weakness. Babies born with congenital myopathies suffer from lack muscle tone at birth.

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Congenital myopathy.

Signs & symptoms

Signs and symptoms of congenital myopathy may include:
- Muscle weakness: Muscles affected are usually neck, shoulder, and pelvis.
- Floppiness: Loss of your child’s muscle tone
- Difficulty breathing: short of breath feeling
- Developmental delays
- Feeding issues

Diagnosis

To diagnose congenital myopathy, your child’s healthcare provider will perform a physical exam. They may request several tests, such as:
- Blood test
- Electromyogram (EMG) - can measure your child's muscle electrical activity
- Muscle biopsy: a small regimen from your child's muscle tissue is taken for thorough inspection
- Genetic testing

Treatment

Treatment of congenital myopathy aims to manage your child's symptoms:
- Orthopedic treatment, if needed.
- Physical therapy.
- Occupational therapy.
- Speech therapy.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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