Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Paralysis of the eye muscles (external ophthalmoplegia) is a primary feature of another atypical form of multiminicore disease. This form of the condition also causes general muscle weakness and feeding difficulties that appear in the first year of life.
HOW IS MULTI-MINICORE DISEASE DIAGNOSED?
The best diagnosis is through a muscle biopsy. A general physician will first look at ruling out other conditions that may cause muscle weakness. MRI scans and lab tests may be used in this regard.
HOW IS MULTI-MINICORE DISEASE TREATED?
The treatment process may include:
• Respiratory support as needed
• aggressive treatment of lower respiratory infections,
• nasogastric feeding and high caloric density formulas as needed
• physical and occupational therapy to improve/maintain gross and fine motor function and reduce joint contractures
• speech therapy as needed
• Orthopedic treatment of scoliosis.
DID YOU KNOW?
Multi-minicore disease is usually inherited in an autosomal recessive pattern.