Amyoplasia
Amyoplasia
Amyoplasia (pronunciation: /ˌæmioʊˈplæziə/) is a rare type of arthrogryposis, a congenital disorder characterized by multiple joint contractures and muscle weakness. The term "amyoplasia" is derived from the Greek words "a-", meaning "without", "myo-", meaning "muscle", and "-plasia", meaning "formation".
Definition
Amyoplasia is a specific type of arthrogryposis multiplex congenita (AMC), which is a broader term for conditions involving multiple joint contractures present at birth. Amyoplasia is distinguished by its specific features, including the absence or severe underdevelopment of certain muscles.
Symptoms
The primary symptom of amyoplasia is the presence of joint contractures, which are joints that are stuck in one position and cannot fully extend. This is often accompanied by muscle weakness and underdevelopment. Other symptoms can include scoliosis, facial abnormalities, and difficulties with breathing and swallowing.
Causes
The exact cause of amyoplasia is unknown, but it is believed to be sporadic, meaning it occurs randomly without a clear genetic link. Some researchers suggest that it may be related to a disruption in blood flow to the muscles during fetal development.
Treatment
Treatment for amyoplasia often involves physical therapy to improve joint mobility and muscle strength. In some cases, surgery may be necessary to correct joint deformities.
Related Terms
External links
- Medical encyclopedia article on Amyoplasia
- Wikipedia's article - Amyoplasia
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