arthrogryposis multiplex congenita 6

Arthrogryposis multiplex congenita 6 is a congenital condition primarily affecting muscle function, with multiple joint contractures and impaired fetal movement evident at birth. Genetic testing has linked this condition to variants in the NEB gene, and it is inherited in an autosomal recessive manner. Although precise prevalence estimates are not available, the features are consistently observed in affected individuals. The condition typically presents in the neonatal period, with early signs including decreased fetal movement that can guide clinical evaluation.

The clinical presentation of arthrogryposis multiplex congenita 6 is marked by several characteristic features. All affected individuals experience respiratory failure, akinesia, the presence of nemaline bodies, and decreased fetal movement, which are seen in nearly all cases. In addition, most individuals display joint contractures consistent with arthrogryposis, while a subset may have polyhydramnios observed during the prenatal period. Less common findings, such as adducted thumbs and large fontanelles, further illustrate the variable expressivity of the condition. Not all individuals experience every feature, and severity varies considerably.

Arthrogryposis multiplex congenita 6 is caused by variants in the NEB gene, which plays a crucial role in the structure and function of muscle fibers. Disruption of this gene leads to impaired muscle development and function. The condition follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits two altered copies of the gene, one from each parent. Families are encouraged to seek genetic counseling to better understand recurrence risks and to explore options for family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for arthrogryposis multiplex congenita 6. Treatment is tailored to the individual and typically involves a multidisciplinary team providing physical therapy, respiratory support, and other interventions aimed at optimizing function and quality of life. Patients and families are encouraged to work closely with their healthcare team and to seek genetic counseling to discuss treatment options and long-term care strategies.

Outcomes in arthrogryposis multiplex congenita 6 vary considerably with each individual, and the overall course of the condition is highly variable. With current standards of care and supportive management, many individuals can experience improvements in quality of life and participate in regular activities, although some may face ongoing challenges related to respiratory and motor functions. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in managing neuromuscular conditions and to consult with a genetic counselor for further guidance.