Classic multiminicore myopathy is a rare genetic disorder that affects the muscles. It is caused by mutations in the SEPN1 gene, which is responsible for the production of a protein called selenoprotein N. Symptoms of classic multiminicore myopathy include muscle weakness, muscle wasting, and difficulty walking. Other symptoms may include joint contractures, scoliosis, and respiratory problems. Treatment typically involves physical therapy, occupational therapy, and medications to help manage symptoms.

The symptoms of classic multiminicore myopathy can vary from person to person, but may include:

-Muscle weakness, especially in the arms and legs
-Muscle wasting
-Delayed motor development
-Difficulty walking
-Frequent falls
-Joint contractures
-Scoliosis
-Difficulty breathing
-Cardiac arrhythmias
-Gastrointestinal problems
-Feeding difficulties
-Delayed speech and language development
-Learning disabilities
-Seizures

The exact cause of classic multiminicore myopathy is unknown. However, it is believed to be caused by mutations in the SEPN1 gene, which is responsible for producing a protein called selenoprotein N. Mutations in this gene can lead to a decrease in the amount of selenoprotein N produced, which can cause the muscle weakness and other symptoms associated with classic multiminicore myopathy.

The treatments for classic multiminicore myopathy vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and improving quality of life. These may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with muscle weakness and pain. In some cases, a feeding tube may be necessary to ensure adequate nutrition. In severe cases, a ventilator may be needed to help with breathing.

1. Autosomal recessive inheritance
2. Mutations in the SEPN1 gene
3. Maternal consanguinity
4. Neonatal hypotonia
5. Respiratory distress
6. Feeding difficulties
7. Muscle weakness
8. Contractures
9. Scoliosis
10. Cardiomyopathy
11. Intellectual disability
12. Seizures
13. Abnormal EEG findings
14. Abnormal MRI findings

At this time, there is no cure for classic multiminicore myopathy. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, such as corticosteroids, and medications to help with pain, such as nonsteroidal anti-inflammatory drugs (NSAIDs). Physical therapy and occupational therapy can also help to improve muscle strength and function.