arthrogryposis, distal, type 1C

Arthrogryposis, distal, type 1C is a congenital condition characterized primarily by joint contractures that affect the distal parts of the limbs, including the fingers and feet. The condition has been associated with changes in the MYL11 gene, which plays a role in muscle function and contractility. It presents in infancy with varying severity, and while there is no specific prevalence data available, the disorder is recognized through its distinct musculoskeletal findings. Outcomes and experiences can differ widely among affected individuals.

Clinically, individuals with arthrogryposis, distal, type 1C often present with multiple joint contractures. Common features include camptodactyly of the fingers, wrist flexion contractures, and knee or elbow contractures, which may be apparent at birth. Other findings that have been observed in a subset of patients include rocker bottom foot, hip contracture, scoliosis, narrow mouth, and short stature, along with less frequently noted traits such as cryptorchidism and increased nuchal translucency. Not all individuals experience all features, and severity varies considerably.

Arthrogryposis, distal, type 1C is linked to variants in the MYL11 gene, which is involved in the regulation of muscle contraction. Disruption of this gene can interfere with normal muscle development, contributing to the contractures observed in affected individuals. The condition has been reported with both autosomal recessive and autosomal dominant inheritance patterns. That not all individuals who carry a pathogenic variant develop symptoms (reduced penetrance), and even within the same family, the type and severity of features can vary (variable expressivity). Families are encouraged to seek genetic counseling to better understand the implications for family planning and recurrence risk.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments specific to arthrogryposis, distal, type 1C. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include physical therapists, occupational therapists, and orthopedic specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. In addition, genetic counseling is recommended to assist families in understanding the condition and planning for the future. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate for their specific situation.

The course of arthrogryposis, distal, type 1C is highly variable, with outcomes depending on the severity of contractures and access to specialized care. With current standards of care, many individuals are able to manage their symptoms and maintain function into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and ongoing management typically involves regular monitoring by a multidisciplinary team. Families often find it helpful to connect with specialists familiar with this condition as well as seek genetic counseling for additional support.