Hereditary inclusion body myopathy type 4 (HIBM4) is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness and wasting (atrophy). 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 (GNE). Symptoms typically begin in adulthood and include muscle weakness and wasting in the legs, arms, and trunk, as well as difficulty walking and climbing stairs. Other symptoms may include muscle cramps, joint stiffness, and difficulty swallowing. There is currently no cure for HIBM4, but physical therapy and other supportive treatments can help manage symptoms.

The symptoms of Hereditary Inclusion Body Myopathy Type 4 (HIBM4) vary from person to person, but may include:

- Muscle Weakness and wasting, especially in the lower legs and arms
- Difficulty walking, climbing stairs, and standing up from a seated position
- Muscle cramps and spasms
- Joint contractures
- Difficulty swallowing
- Fatigue
- Difficulty breathing
- Abnormal gait
- Difficulty with fine motor skills
- Drooping eyelids
- Difficulty speaking
- Cognitive impairment

Hereditary inclusion body myopathy type 4 (HIBM4) is caused by mutations in the GNE gene. This gene provides instructions for making an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is involved in the production of sialic acid, which is a sugar molecule found on the surface of cells. Mutations in the GNE gene lead to a decrease in the activity of this enzyme, which disrupts the production of sialic acid and causes the signs and symptoms of HIBM4.

Currently, there is no known cure for Hereditary Inclusion Body Myopathy Type 4 (HIBM4). Treatment focuses on managing symptoms and preventing complications. Treatment options may include physical therapy, occupational therapy, speech therapy, orthopedic braces, and assistive devices. Medications may also be prescribed to help manage muscle weakness, pain, and fatigue. Additionally, lifestyle modifications such as a healthy diet and regular exercise may help improve overall health and quality of life.

1. Inherited genetic mutation: Hereditary inclusion body myopathy type 4 is caused by a mutation in the GNE gene.

2. Age: Hereditary inclusion body myopathy type 4 is more common in adults over the age of 40.

3. Gender: Hereditary inclusion body myopathy type 4 is more common in males than females.

4. Ethnicity: Hereditary inclusion body myopathy type 4 is more common in people of Ashkenazi Jewish descent.

At this time, there is no known cure or medications for Hereditary Inclusion Body Myopathy Type 4 (HIBM4). Treatment is focused on managing symptoms and preventing complications. This may include physical therapy, occupational therapy, and medications to help with muscle weakness, pain, and fatigue.