Kuskokwim disease
Kuskokwim disease Causes
The cause is not known, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, decreased amniotic fluid, septum of the uterus, muscle and connective tissue developmental abnormalities.
Kuskokwim disease Definition
Kuskokwim disease is a rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures. It is a type of Arthrogryposis Multiplex Congenita, a rare congenital disorder that causes multiple joint contractures and is marked by muscle weakness and fibrosis.
Kuskokwim disease Diagnosis
To date, no prenatal diagnostic tools are available to test for Kuskokwim disease. Diagnosis is only used to eliminate other causes.
Kuskokwim disease Symptoms and Signs
Some of the more common signs and symptoms are linked with the shoulder (internal rotation deformity), elbow (extension and pronation deformity), wrist (volar and ulnar deformity), hand (fingers in fixed flexion and thumb-in-palm deformity), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion deformity) and foot (clubfoot deformity). Complications may include lung hypoplasia leading to respiratory problems, growth retardation, scoliosis, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias. Speech and cognition are usually normal.
Kuskokwim disease Treatment
While there is no cure, symptoms and deformities may still be relieved with various methods due to multiple contractures and weakness. Physical therapy intervention including stretching, strengthening, and mobility training, are undertaken to improve flexion and range of motion. Occupational therapy interventions may include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of a chronic condition.