Distal arthrogryposis Moore–Weaver type

Distal Arthrogryposis Moore-Weaver Type is a rare genetic disorder characterized by multiple congenital contractures that affect the distal parts of the limbs. This condition is part of a larger group of disorders known as Distal Arthrogryposis (DA), which are primarily distinguished by the involvement of the hands and feet. The Moore-Weaver type, also referred to as DA type 3, exhibits unique clinical features that differentiate it from other forms of distal arthrogryposis.

Clinical Features

The hallmark of Distal Arthrogryposis Moore-Weaver Type is the presence of contractures in the distal limbs, particularly affecting the fingers and toes. Individuals with this condition may exhibit camptodactyly (permanent flexion of the fingers), talipes equinovarus (clubfoot), and limited range of motion in the affected joints. In addition to limb abnormalities, some patients may present with facial anomalies, including a small mouth (microstomia), a small jaw (micrognathia), and a round face. Unlike other types of distal arthrogryposis, the Moore-Weaver type is noted for its lack of severe involvement of the hips, knees, and elbows.

Genetics

Distal Arthrogryposis Moore-Weaver Type is inherited in an Autosomal Dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. The specific genetic mutations responsible for this condition have not been fully elucidated, making genetic counseling and prediction of recurrence risk challenging for affected families.

Diagnosis

The diagnosis of Distal Arthrogryposis Moore-Weaver Type is primarily clinical, based on the characteristic physical findings and family history. Prenatal diagnosis may be possible in some cases through advanced imaging techniques such as ultrasound, where contractures or other skeletal abnormalities are detected before birth. Genetic testing may offer additional insights, although the absence of a well-defined genetic marker limits its utility in some cases.

Management and Treatment

Management of Distal Arthrogryposis Moore-Weaver Type is multidisciplinary, involving orthopedic surgeons, physical therapists, and other specialists as needed. The primary goal of treatment is to improve mobility and function in the affected limbs. This may involve surgical interventions to release contractures, as well as physical therapy to enhance range of motion and strength. Orthotic devices may also be beneficial in supporting proper limb positioning and function.

Prognosis

The prognosis for individuals with Distal Arthrogryposis Moore-Weaver Type varies depending on the severity of the contractures and the success of treatment interventions. With appropriate management, many individuals can achieve good functional outcomes and lead active lives. However, the presence of significant joint contractures may limit mobility and physical activity to varying degrees.

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