About Autosomal recessive multiple pterygium syndrome
What is Autosomal recessive multiple pterygium syndrome?
Autosomal recessive multiple pterygium syndrome (ARMP) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by mutations in the PTPN11 gene, which is responsible for the production of a protein called SHP2. Symptoms of ARMP can include joint contractures, muscle weakness, respiratory problems, and developmental delays. Treatment typically involves physical therapy, occupational therapy, and surgery to correct the pterygia.
What are the symptoms of Autosomal recessive multiple pterygium syndrome?
The symptoms of Autosomal recessive multiple pterygium syndrome (ARMP) vary from person to person, but may include:
-Joint contractures (Stiffness and limited movement of the joints)
-Muscle weakness
-Scoliosis (curvature of the spine)
-Abnormal facial features, including a small jaw and a high-arched palate
-Cleft lip and/or palate
-Hearing loss
-Heart defects
-Kidney abnormalities
-Intellectual disability
-Seizures
-Feeding difficulties
-Respiratory problems
-Growth delays
What are the causes of Autosomal recessive multiple pterygium syndrome?
Autosomal recessive multiple pterygium syndrome (ARMP) is a rare genetic disorder caused by mutations in the ZMPSTE24 gene. This gene is responsible for producing an enzyme that helps to process proteins in the body. When this gene is mutated, it can lead to the development of ARMP. Other causes of ARMP include environmental factors, such as exposure to certain toxins or radiation, as well as certain medications.
What are the treatments for Autosomal recessive multiple pterygium syndrome?
There is no known cure for Autosomal recessive multiple pterygium syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and other interventions to help improve mobility, strength, and function. Other treatments may include medications to help manage pain, seizures, and other symptoms. In some cases, surgery may be necessary to correct joint contractures or other physical deformities.
What are the risk factors for Autosomal recessive multiple pterygium syndrome?
1. Family history: Autosomal recessive multiple pterygium syndrome is an inherited disorder, so having a family history of the condition increases the risk of developing it.
2. Ethnicity: Autosomal recessive multiple pterygium syndrome is more common in certain ethnic groups, such as those of Middle Eastern, North African, and Mediterranean descent.
3. Genetic mutations: Autosomal recessive multiple pterygium syndrome is caused by mutations in the PTPN11 gene. Having a mutation in this gene increases the risk of developing the condition.
Is there a cure/medications for Autosomal recessive multiple pterygium syndrome?
At this time, there is no cure for Autosomal recessive multiple pterygium syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and medications to help manage pain and muscle spasms.