About Bruck syndrome

What is Bruck syndrome?

Bruck syndrome is a rare genetic disorder characterized by joint laxity, skeletal abnormalities, and skin fragility. It is caused by mutations in the lamin A/C gene, which is responsible for the production of laminin, a protein that helps to form the structural framework of cells. Symptoms of Bruck syndrome can include joint hypermobility, skeletal deformities, fragile skin, and hernias.

What are the symptoms of Bruck syndrome?

The symptoms of Bruck syndrome vary from person to person, but may include:

- Joint laxity (loose joints)
- Muscle weakness
- Delayed motor development
- Scoliosis (curvature of the spine)
- Kyphosis (hunchback)
- Hip dislocation
- Abnormal gait
- Abnormal facial features
- Hearing loss
- Vision problems
- Intellectual disability
- Seizures
- Skin abnormalities
- Cardiac defects

What are the causes of Bruck syndrome?

Bruck syndrome is a rare genetic disorder caused by mutations in the FKBP10 gene. These mutations can be inherited from a parent or can occur spontaneously. The exact cause of the mutations is unknown.

What are the treatments for Bruck syndrome?

The treatments for Bruck syndrome vary depending on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and bracing. In some cases, medications may be prescribed to help manage pain and other symptoms. Surgery may be necessary to correct joint deformities or to stabilize the spine. In some cases, a wheelchair may be necessary to help with mobility.

What are the risk factors for Bruck syndrome?

The primary risk factor for Bruck syndrome is a genetic mutation in the COL2A1 gene. This gene is responsible for producing type II collagen, which is a protein found in the bones, cartilage, and other connective tissues. Other risk factors include a family history of the disorder, being of Ashkenazi Jewish descent, and having a mother who was exposed to certain medications during pregnancy.

Is there a cure/medications for Bruck syndrome?

There is no cure for Bruck syndrome, but medications can be used to manage the symptoms. These medications may include physical therapy, occupational therapy, braces, and medications to help with muscle spasms and pain. Surgery may also be recommended to correct any skeletal deformities.