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About Autosomal recessive amelia

What is Autosomal recessive amelia?

Autosomal recessive amelia is a rare genetic disorder characterized by the absence of one or more limbs. It is caused by a mutation in a gene on an autosome, which is one of the 22 pairs of chromosomes that are not involved in determining sex. People with this disorder typically have normal intelligence and can lead normal lives with the help of prosthetics and other assistive devices.

What are the symptoms of Autosomal recessive amelia?

The symptoms of Autosomal recessive amelia include:

-Absence of all four limbs
-Absence of the pelvic bones
-Absence of the shoulder blades
-Absence of the collarbones
-Absence of the ribs
-Absence of the sternum
-Absence of the vertebrae
-Absence of the scapulae
-Absence of the humerus
-Absence of the radius and ulna
-Absence of the hands and feet
-Absence of the digits
-Absence of the facial bones
-Absence of the nose
-Absence of the ears
-Absence of the eyes
-Absence of the scalp
-Absence of the scalp hair
-Absence of the scalp muscles
-Absence of the scalp skin

What are the causes of Autosomal recessive amelia?

The causes of Autosomal recessive amelia are not fully understood. However, it is believed to be caused by a combination of genetic and environmental factors. Possible causes include mutations in certain genes, such as the HOXA13 gene, as well as environmental factors, such as exposure to certain toxins or medications during pregnancy.

What are the treatments for Autosomal recessive amelia?

1. Prosthetic limbs: Prosthetic limbs can be used to replace missing limbs and help improve mobility.

2. Physical therapy: Physical therapy can help improve strength and range of motion in the remaining limbs.

3. Surgery: Surgery may be used to correct any skeletal deformities or to improve the function of the remaining limbs.

4. Orthotics: Orthotics can be used to help support the remaining limbs and improve mobility.

5. Assistive devices: Assistive devices such as wheelchairs, walkers, and braces can help improve mobility.

6. Occupational therapy: Occupational therapy can help improve fine motor skills and daily living activities.

What are the risk factors for Autosomal recessive amelia?

1. Consanguinity (close relatives having children together)
2. Family history of autosomal recessive amelia
3. Maternal age over 35
4. Exposure to certain environmental toxins
5. Certain genetic mutations
6. Low socioeconomic status
7. Low maternal folate levels

Is there a cure/medications for Autosomal recessive amelia?

At this time, there is no cure for autosomal recessive amelia. However, there are treatments available to help manage the symptoms. These include physical therapy, occupational therapy, and orthopedic surgery. Medications may also be prescribed to help manage pain and other symptoms.