distal arthrogryposis type 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome that primarily affects the joints of the hands, feet, shoulders, neck, and other parts of the body. It is associated with congenital joint contractures and varying degrees of muscle and connective tissue involvement. The condition results from pathogenic variants in the ECEL1 gene and is inherited in an autosomal recessive manner. It is very rare, affecting fewer than one in a million individuals, a prevalence that underscores the specialized care required for affected families.

Clinically, individuals with distal arthrogryposis type 5D present with multiple joint contractures, a hallmark of arthrogryposis multiplex congenita. Characteristic features include congenital hip dislocation, hyperlordosis, a short neck, limited knee flexion, decreased muscle mass, and tongue atrophy, which are seen in every affected individual. In addition, a subset of patients may exhibit limited elbow or shoulder movement, narrow or open mouth, scoliosis, ptosis, hypermobility of distal interphalangeal joints, lagophthalmos, hypoplastic labia majora, calcaneovalgus deformity, cleft palate, and talipes equinovarus. Not all individuals experience all features, and severity varies considerably.

The underlying cause of distal arthrogryposis type 5D is linked to pathogenic variants in the ECEL1 gene. This gene plays a role in musculoskeletal development, and its disruption leads to the abnormal formation and contracture of joints. The condition is inherited in an autosomal recessive pattern, meaning that affected individuals inherit two copies of the mutated gene, one from each parent. It is more common when parents share a common ancestor, as this increases the likelihood that both may carry the same rare variant. Families are encouraged to seek genetic counseling to better understand the inheritance and implications for future family planning.

Currently, management of distal arthrogryposis type 5D focuses on supportive care and symptom management, as no specific treatments are approved for this condition. Treatment plans are highly individualized and typically involve a multidisciplinary team that may include specialists in orthopedics and rehabilitation. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Patients and families are advised to discuss treatment options with their healthcare team and to consider genetic counseling as an integral part of managing the condition.

Outcomes for individuals with distal arthrogryposis type 5D vary considerably, with severity and specific manifestations differing from person to person. With current standards of supportive care and multidisciplinary management, many individuals are able to lead active lives, although regular monitoring is important to address emerging challenges. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists and genetic counselors to gain a comprehensive understanding of the condition and to receive guidance on long-term management.