Arthrogryposis multiplex congenita, distal, x-linked

A rare genetic disorder affecting joint movement

Arthrogryposis multiplex congenita, distal, X-linked
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Limited joint movement, muscle weakness
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Physical therapy, orthopedic interventions
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Arthrogryposis multiplex congenita, distal, X-linked (AMCDXL) is a rare genetic disorder characterized by congenital joint contractures, primarily affecting the distal joints of the limbs. This condition is inherited in an X-linked manner, meaning the gene responsible for the disorder is located on the X chromosome.

Clinical Features

Individuals with AMCDXL typically present with limited movement in the hands and feet due to joint contractures. These contractures are often accompanied by muscle weakness and may lead to difficulties in performing daily activities. The severity of symptoms can vary widely among affected individuals.

Genetics

AMCDXL is caused by mutations in the gene located on the X chromosome. As an X-linked disorder, it predominantly affects males, while females may be carriers of the mutation. Carrier females typically do not exhibit symptoms but have a 50% chance of passing the mutated gene to their offspring.

Diagnosis

Diagnosis of AMCDXL is based on clinical evaluation and the presence of characteristic joint contractures. Genetic testing can confirm the diagnosis by identifying mutations in the specific gene associated with the disorder. Prenatal diagnosis is possible if there is a known family history of the condition.

Management

There is no cure for AMCDXL, but management focuses on improving joint function and quality of life. Treatment options include:

• Physical therapy to enhance mobility and strengthen muscles.
• Orthopedic surgery to correct severe contractures and improve limb function.
• Use of assistive devices to aid in daily activities.

Prognosis

The prognosis for individuals with AMCDXL varies depending on the severity of the condition and the effectiveness of interventions. With appropriate management, many individuals can lead active lives, although they may require ongoing support and therapy.

Also see

• Arthrogryposis multiplex congenita
• X-linked recessive inheritance
• Genetic disorders
• Orthopedic surgery