SNP Shot: Genomic Insights

Distal arthrogryposis type 1 is a condition defined by joint contractures, which limit movement, particularly in the hands and feet. The name "arthrogryposis" originates from Greek, combining "arthro-" (joint) and "gryposis" (crooked or hooked). Common signs include fingers and toes that are permanently bent (camptodactyly), fingers that overlap, and ulnar deviation, a hand deformity where all fingers angle towards the little finger. Clubfoot, where the foot turns inward and upward, is also frequently observed. The exact hand and foot issues can differ between individuals with the condition. Importantly, distal arthrogryposis type 1 generally does not affect other parts of the body.

Inheritance:

Distal arthrogryposis type 1 follows an autosomal dominant inheritance pattern. This means that only one copy of a mutated gene in each cell is enough to cause the disorder. Often, individuals with distal arthrogryposis type 1 will have a parent or other relatives who also have the condition.