About Congenital multicore myopathy with external ophthalmoplegia
What is Congenital multicore myopathy with external ophthalmoplegia?
Congenital multicore myopathy with external ophthalmoplegia (CMEOP) is a rare genetic disorder that affects the muscles and nerves. It is characterized by weakness and wasting of the muscles, especially in the face and neck, and by paralysis of the eye muscles (ophthalmoplegia). It is caused by mutations in the SEPN1 gene, which is responsible for the production of a protein that helps maintain the structure of muscle cells. CMEOP is usually diagnosed in infancy or early childhood and can lead to severe disability. Treatment is supportive and may include physical therapy, occupational therapy, and speech therapy.
What are the symptoms of Congenital multicore myopathy with external ophthalmoplegia?
The symptoms of Congenital multicore myopathy with external ophthalmoplegia include:
-Weakness in the muscles of the face, neck, and limbs
-Difficulty swallowing
-Drooping eyelids (ptosis)
-Double vision (diplopia)
-Difficulty moving the eyes (ophthalmoplegia)
-Facial weakness
-Difficulty speaking (dysarthria)
-Difficulty breathing (dyspnea)
-Muscle wasting (atrophy)
-Joint contractures
-Scoliosis
-Cardiac arrhythmias
What are the causes of Congenital multicore myopathy with external ophthalmoplegia?
The exact cause of congenital multicore myopathy with external ophthalmoplegia (CMEOP) is unknown. However, it is believed to be caused by a genetic mutation in the SEPN1 gene, which is responsible for the production of the selenoprotein N1 protein. Mutations in this gene can lead to a decrease in the production of this protein, which can cause the muscle weakness and ophthalmoplegia associated with CMEOP.
What are the treatments for Congenital multicore myopathy with external ophthalmoplegia?
1. Physical therapy: Physical therapy can help to improve muscle strength, flexibility, and range of motion.
2. Occupational therapy: Occupational therapy can help to improve daily living skills, such as dressing, eating, and writing.
3. Speech therapy: Speech therapy can help to improve communication skills.
4. Medications: Medications can help to reduce muscle spasms and improve muscle strength.
5. Surgery: Surgery may be recommended to correct any structural abnormalities in the eyes or other parts of the body.
6. Assistive devices: Assistive devices, such as wheelchairs, can help to improve mobility.
What are the risk factors for Congenital multicore myopathy with external ophthalmoplegia?
1. Genetic mutations in the RYR1 gene
2. Family history of the disorder
3. Maternal diabetes
4. Maternal use of certain medications during pregnancy
5. Maternal exposure to certain environmental toxins during pregnancy
6. Maternal age over 35 years old
Is there a cure/medications for Congenital multicore myopathy with external ophthalmoplegia?
At this time, there is no known cure for Congenital multicore myopathy with external ophthalmoplegia. However, there are medications that can help manage the symptoms of the condition. These medications include muscle relaxants, anticonvulsants, and medications to help with fatigue. Physical therapy and occupational therapy can also help to improve muscle strength and coordination.