About Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
What is Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (COAREMEO) is a rare genetic disorder characterized by progressive muscle weakness and wasting (myopathy) that begins in childhood and is caused by mutations in the SLC25A4 gene. It is also characterized by external ophthalmoplegia, which is a condition in which the muscles that control eye movement become weak and paralyzed. Other symptoms may include muscle stiffness, difficulty walking, and difficulty swallowing.
What are the symptoms of Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
The symptoms of Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (CARME) include:
-Muscle Weakness and wasting, especially in the arms and legs
-Difficulty walking and climbing stairs
-Difficulty with fine motor skills
-Drooping eyelids (ptosis)
-Double vision (diplopia)
-Difficulty swallowing (dysphagia)
-Frequent falls
-Fatigue
-Joint contractures
-Scoliosis
-Cardiac arrhythmias
-Respiratory problems
What are the causes of Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
The exact cause of Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (CAMEO) is unknown. However, it is believed to be caused by mutations in the SLC25A4 gene, which is responsible for the production of a protein called adenine nucleotide translocator (ANT). Mutations in this gene can lead to a decrease in the amount of ANT produced, which can cause the symptoms associated with CAMEO.
What are the treatments for Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
Treatment for Childhood-onset autosomal recessive myopathy with external ophthalmoplegia is largely supportive. Physical therapy and occupational therapy can help to maintain muscle strength and function. Assistive devices such as wheelchairs, walkers, and braces may be necessary to help with mobility. Medications such as corticosteroids may be used to reduce inflammation and improve muscle strength. Surgery may be necessary to correct any deformities or contractures. In some cases, a feeding tube may be necessary to ensure adequate nutrition.
What are the risk factors for Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
1. Autosomal recessive inheritance pattern
2. Mutations in the RYR1 gene
3. Mutations in the SLC25A4 gene
4. Mutations in the C10orf2 gene
5. Mutations in the C10orf2 gene
6. Mutations in the C10orf2 gene
7. Mutations in the C10orf2 gene
8. Mutations in the C10orf2 gene
9. Mutations in the C10orf2 gene
10. Mutations in the C10orf2 gene
11. Mutations in the C10orf2 gene
12. Mutations in the C10orf2 gene
13. Mutations in the C10orf2 gene
14. Mutations in the C10orf2 gene
15. Mutations in the C10
Is there a cure/medications for Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?
At this time, there is no known cure for Childhood-onset autosomal recessive 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 pain relief. Physical therapy and occupational therapy can also help to improve muscle strength and coordination.