Distal arthrogryposis type 2A

Distal Arthrogryposis Type 2A

Distal Arthrogryposis Type 2A, also known as Freeman-Sheldon syndrome, is a rare genetic disorder characterized by multiple congenital contractures, facial anomalies, and skeletal malformations. It is one of the subtypes of distal arthrogryposis, which primarily affects the distal parts of the limbs.

Clinical Features

Individuals with Distal Arthrogryposis Type 2A typically present with a range of clinical features, including:

• Facial Anomalies: A distinctive facial appearance is often noted, including a small mouth (microstomia), pursed lips, and a "whistling face" appearance. Facial anomalies in Freeman-Sheldon syndrome
• Contractures: Congenital contractures of the hands and feet are common, leading to camptodactyly (permanently bent fingers) and clubfoot. Contractures in distal arthrogryposis
• Skeletal Malformations: Other skeletal abnormalities may include scoliosis and joint stiffness. Skeletal malformations in Freeman-Sheldon syndrome

Genetic Basis

Distal Arthrogryposis Type 2A is caused by mutations in the MYH3 gene, which encodes a protein involved in muscle contraction. The disorder is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the condition. MYH3 gene mutations

Diagnosis

Diagnosis of Distal Arthrogryposis Type 2A is based on clinical evaluation, family history, and genetic testing to identify mutations in the MYH3 gene. Diagnosis of distal arthrogryposis

Management

Management of the condition is symptomatic and supportive, focusing on improving mobility and function. This may include:

• Physical Therapy: To improve joint mobility and muscle strength. Physical therapy for arthrogryposis
• Orthopedic Interventions: Surgical procedures may be necessary to correct severe contractures or skeletal deformities. Orthopedic surgery in Freeman-Sheldon syndrome
• Speech Therapy: To address speech difficulties due to facial anomalies. Speech therapy for facial anomalies

Prognosis

The prognosis for individuals with Distal Arthrogryposis Type 2A varies depending on the severity of the symptoms. With appropriate management, many individuals can lead relatively normal lives, although they may face challenges related to mobility and physical appearance. Prognosis of Freeman-Sheldon syndrome

Research and Future Directions

Ongoing research aims to better understand the genetic and molecular mechanisms underlying Distal Arthrogryposis Type 2A, with the hope of developing targeted therapies in the future. Research in distal arthrogryposis

NIH genetic and rare disease info

• NIH info on Distal arthrogryposis type 2A

Distal arthrogryposis type 2A is a rare disease.