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About Autosomal recessive brachyolmia

What is Autosomal recessive brachyolmia?

Autosomal recessive brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by mutations in the RMRP gene, which is responsible for the production of a protein that helps to maintain the structure of the skeleton. Symptoms of this disorder include short stature, joint stiffness, and muscle weakness. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

What are the symptoms of Autosomal recessive brachyolmia?

The symptoms of Autosomal recessive brachyolmia include:

-Short stature
-Broad chest
-Short arms and legs
-Flattened vertebrae
-Curvature of the spine
-Hip and shoulder joint abnormalities
-Joint stiffness
-Muscle weakness
-Abnormal gait
-Delayed motor development
-Delayed speech development
-Hearing loss
-Heart defects
-Respiratory problems
-Gastrointestinal problems
-Intellectual disability

What are the causes of Autosomal recessive brachyolmia?

The exact cause of autosomal recessive brachyolmia is unknown. However, it is believed to be caused by mutations in the COL1A1 and COL1A2 genes, which are responsible for producing type 1 collagen, a protein that helps form the body's connective tissues. Mutations in these genes can lead to the abnormal development of bones and joints, resulting in the characteristic features of brachyolmia.

What are the treatments for Autosomal recessive brachyolmia?

1. Physical therapy: Physical therapy can help to improve strength, flexibility, and range of motion in the affected muscles.

2. Surgery: Surgery may be recommended to correct any skeletal deformities caused by the condition.

3. Assistive devices: Assistive devices such as braces, splints, and wheelchairs may be used to help with mobility.

4. Medications: Medications such as muscle relaxants and pain relievers may be prescribed to help manage symptoms.

5. Occupational therapy: Occupational therapy can help to improve daily functioning and independence.

What are the risk factors for Autosomal recessive brachyolmia?

1. Family history of the disorder
2. Being of Ashkenazi Jewish descent
3. Having a parent who is a carrier of the gene mutation
4. Having a parent with the disorder
5. Being born prematurely
6. Having a low birth weight
7. Having a short stature
8. Having a curved spine
9. Having a barrel-shaped chest
10. Having joint stiffness
11. Having a limited range of motion in the arms and legs
12. Having a short neck
13. Having a small head circumference
14. Having a flattened face
15. Having a small jaw
16. Having a high-arched palate
17. Having a cleft palate
18. Having a small chin
19. Having a short nose
20. Having a wide-set eyes
21. Having a small mouth

Is there a cure/medications for Autosomal recessive brachyolmia?

Yes, there are treatments available for autosomal recessive brachyolmia. Treatment typically involves physical therapy, bracing, and surgery. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation. In some cases, growth hormone therapy may be recommended to help improve muscle strength and function.