In collaboration with the University of Texas, we are conducting a
survey to learn about people’s perceptions of online health
communication and celebrity diagnoses. We would like to know your
opinion. Click to participate.Meet Rion Paige. This young lady from Jacksonville FL blew away the X-Factor judges with the appropriately named Carrie Underwood song Blown Away.
But you might notice something a little different about this 13-year-old powerhouse singer. Rion has a congenital condition called arthrogryposis multiplex congenita, which has caused permanent damage to her arms, causing her hands to be fixed in an a bent position. She is also blind in her right eye from .
Even the sometimes cantankerous Simon Cowell was smitten with Rion, saying:
"I remember the day I met Carrie Underwood and I remember predicting this girl was going to go on and do special things with her life. And I’m gonna say the same thing about you, Rion."Here's Rion's audition:
What is Arthrogryposis Multiplex Congenita?
Arthrogryposis multiplex congenita (AMC) is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis).The condition is present at birth, but does not progress over time. It is estimated that 1 in 10,000 people worldwide are affected by the disorder.
Most cases occur sporadically, although sometimes AMC occurs as part of genetic syndrome.
According to the , arthrogyposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active in muscle cells, where they interact with other muscle proteins to help regulate muscle contraction. It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1. However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth.
Affected people have limited or absent movement in large and small joints. The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen.
Surrounding muscles are underdeveloped because of disuse. The arms and legs are frequently affected, with the ankles and wrist being the most affected. This condition typically does not cause any signs and symptoms affecting other parts of the body, unless it is one feature of a larger syndrome.
There are probably multiple causes but all seem to be related to one of two underlying mechanisms:
- Decreased fetal movement
- Hyperthermia in the mother during pregnancy
- "Crowded" conditions -- such as a structural abnormality of womb or multiple births
- Maternal illness -- caused by a virus, drug use, or other maternal conditions
- Low amniotic fluid ()
- Neurological or muscle problems in the fetus
Although there is no "cure" for AMC, patients can be helped with selective surgery to correct conditions such as clubfoot. Physical therapy, especially in infancy, can also help improve some joint movement and muscle strength. Splints and casts can support affected limbs. Occupational therapy incorporates training in fine motor skills and activities of daily life.
For more information, click to go to the Resounding Health Casebook on the topic.