About Diastrophic Dysplasia

What is Diastrophic Dysplasia?

Diastrophic dysplasia is a rare genetic disorder that affects the growth and development of bones and cartilage. It is caused by a mutation in the SLC26A2 gene, which is responsible for the production of a protein called diastrophic dysplasia sulfate transporter. Symptoms of the disorder include short stature, joint stiffness, clubfoot, and hearing loss. Other complications can include scoliosis, hip dislocation, and cleft palate. Treatment typically involves physical therapy, orthopedic surgery, and hearing aids.

What are the symptoms of Diastrophic Dysplasia?

The most common symptoms of Diastrophic Dysplasia include:

-Short stature
-Joint Stiffness and pain
-Hip and knee dislocations
-Flat feet
-Abnormal curvature of the spine
-Abnormal skull shape
-Abnormal ear shape
-Cleft palate
-Hearing loss
-Heart defects
-Kidney and urinary tract abnormalities
-Intellectual disability

What are the causes of Diastrophic Dysplasia?

Diastrophic dysplasia is caused by a mutation in the SLC26A2 gene. This gene provides instructions for making a protein that is involved in the development of cartilage and other connective tissues. The mutation affects the structure and function of the protein, leading to the signs and symptoms of diastrophic dysplasia.

What are the treatments for Diastrophic Dysplasia?

The treatments for Diastrophic Dysplasia vary depending on the individual and the severity of the condition. Generally, treatments may include physical therapy, occupational therapy, orthopedic surgery, and speech therapy. Other treatments may include the use of braces, splints, and other assistive devices to help with mobility and daily activities. In some cases, medications may be prescribed to help with pain management.

What are the risk factors for Diastrophic Dysplasia?

1. Genetic mutation in the SLC26A2 gene
2. Family history of Diastrophic Dysplasia
3. Exposure to certain environmental toxins
4. Maternal age over 35
5. Maternal diabetes or obesity

Is there a cure/medications for Diastrophic Dysplasia?

Yes, there is no cure for diastrophic dysplasia, but there are medications and treatments available to help manage the symptoms. These include physical therapy, orthopedic surgery, and medications to help with pain and inflammation. Additionally, there are genetic counseling and support services available to help families cope with the condition.