Congenital lethal myopathy, Compton-North type is a rare genetic disorder that affects the muscles and is usually fatal in infancy. It is caused by a mutation in the GNE gene, which is responsible for the production of an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is essential for the production of sialic acid, which is important for the proper functioning of muscles. Symptoms of this disorder include hypotonia (low muscle tone), muscle weakness, and respiratory failure.

The symptoms of Congenital Lethal Myopathy, Compton-North type, include:

-Severe Hypotonia (low muscle tone)
-Respiratory distress
-Feeding difficulties
-Lack of muscle development
-Lack of movement
-Seizures
-Developmental delay
-Limb contractures
-Cardiac abnormalities
-Gastrointestinal abnormalities
-Facial dysmorphism
-Hearing loss
-Ophthalmologic abnormalities

Congenital lethal myopathy, Compton-North type is a rare genetic disorder caused by mutations in the RYR1 gene. This gene provides instructions for making a protein called ryanodine receptor 1, which is found in skeletal muscle cells. This protein helps regulate the release of calcium from the cells, which is necessary for muscle contraction. Mutations in the RYR1 gene lead to an abnormal form of the protein that does not function properly, resulting in muscle weakness and wasting.

Unfortunately, there is no known cure for Congenital Lethal Myopathy, Compton-North type. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and respiratory support. Medications may also be prescribed to help manage muscle spasms, pain, and other symptoms. In some cases, surgery may be recommended to help improve mobility and quality of life.

1. Autosomal recessive inheritance
2. Mutations in the RYR1 gene
3. Maternal diabetes
4. Maternal advanced age
5. Maternal obesity
6. Maternal smoking
7. Maternal alcohol consumption
8. Maternal use of certain medications
9. Maternal exposure to certain environmental toxins
10. Maternal infection during pregnancy

At this time, there is no known cure or medications for Congenital Lethal Myopathy, Compton-North type. Treatment is focused on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and speech therapy. Medications may be prescribed to help manage muscle spasms, pain, and other symptoms.