arthrogryposis multiplex congenita 5

Arthrogryposis multiplex congenita 5 is a multisystem condition that primarily affects the musculoskeletal and neurological systems. It is linked to pathogenic variants in the TOR1A gene, and individuals with this condition show a range of physical and developmental challenges. The condition is inherited in an autosomal recessive manner, meaning that affected individuals have inherited two copies of the variant. Prevalence data are not well established, and the severity of symptoms can vary considerably among those affected.

Individuals with arthrogryposis multiplex congenita 5 present with a broad array of clinical features. Characteristic findings include hypertonia, generalized hypotonia, dystonia, and flexion contractures, as well as multiple skeletal anomalies such as scoliosis, hip dislocation, and the presence of 11 pairs of ribs. Neurologically, global developmental delay indicates cognitive involvement, and additional features such as microcephaly and hand clenching contribute to a complex clinical picture. Not all individuals experience all features, and severity varies considerably, with many symptoms being apparent from birth and evolving over time.

The condition is caused by pathogenic variants in the TOR1A gene, which is important for normal cellular function. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the altered gene for an individual to be affected. This inheritance pattern has important implications for family members, and genetic counseling is recommended to provide further guidance and discuss the risk of recurrence in future pregnancies.

Currently, management of arthrogryposis multiplex congenita 5 focuses on supportive care and symptom management. Because no treatments are specifically approved for this condition, care is tailored to the individual and typically involves a multidisciplinary team that may include physical and occupational therapists, orthopedic specialists, and neurologists. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Families are encouraged to seek genetic counseling to discuss treatment options and further family planning.

The long-term outlook for individuals with arthrogryposis multiplex congenita 5 is variable, with outcomes that depend on the severity and range of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals can experience improvements in quality of life and actively participate in supportive therapies to manage complications. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it useful to connect with specialists experienced in this condition and with genetic counseling services for ongoing support.