Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (HIBM-JCO) is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness, joint contractures, and ophthalmoplegia (weakness of the eye muscles). It is caused by mutations in the GNE gene, which is responsible for the production of an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Symptoms typically begin in adulthood and worsen over time, leading to difficulty walking, climbing stairs, and performing daily activities. Treatment is supportive and may include physical therapy, occupational therapy, and orthopedic surgery.

The symptoms of Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome (HIBM-JCO) include:

-Muscle Weakness and wasting, especially in the lower legs and arms

-Joint contractures, which are permanent shortening of the muscles and tendons around a joint

-Ophthalmoplegia, which is a Paralysis of the eye muscles

-Difficulty walking

-Difficulty with fine motor skills

-Difficulty with speech

-Difficulty swallowing

-Fatigue

-Pain in the muscles and joints

-Difficulty breathing

-Heart problems

-Gastrointestinal problems

-Cognitive impairment

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (HIBM-JCO) is a rare, inherited neuromuscular disorder caused by mutations in the GNE gene. This gene provides instructions for making an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, which is involved in the production of sialic acid, a sugar molecule found on the surface of cells. Mutations in the GNE gene lead to a decrease in the production of sialic acid, which affects the structure and function of muscle cells. This leads to the muscle weakness and other symptoms associated with HIBM-JCO.

Currently, there is no known cure for Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome. Treatment focuses on managing the symptoms and preventing further complications. Treatment may include physical therapy to help maintain joint mobility, occupational therapy to help with daily activities, and medications to help reduce muscle spasms and pain. Surgery may be recommended to correct joint contractures. Speech therapy may be recommended to help with speech and swallowing difficulties. Eye drops may be prescribed to help with dry eyes.

1. Inherited genetic mutation: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome is caused by a mutation in the GNE gene.

2. Age: The condition is more common in adults over the age of 40.

3. Gender: Men are more likely to be affected than women.

4. Family history: Individuals with a family history of the condition are at an increased risk.

At this time, there is no known cure for Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome (HIBM-JCO). However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle spasms, improve muscle strength, and reduce inflammation. Physical therapy and occupational therapy can also help to improve muscle strength and function.