Amc

Amc
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Joint contractures, muscle weakness
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Physical therapy, orthopedic surgery
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Amc, or Arthrogryposis Multiplex Congenita, is a rare condition characterized by multiple joint contractures found throughout the body at birth. The term "arthrogryposis" is derived from Greek, meaning "curved or hooked joints." This condition is not a specific diagnosis but rather a clinical finding that can result from various underlying causes.

Etiology

Arthrogryposis can result from a variety of genetic and environmental factors. The primary cause is believed to be decreased fetal movement (fetal akinesia) during development, which can be due to:

• Neuromuscular disorders
• Connective tissue disorders
• Maternal illness
• Uterine abnormalities

Genetic mutations are often implicated, and several specific syndromes associated with arthrogryposis have been identified, such as:

• Amyoplasia
• Distal arthrogryposis
• X-linked arthrogryposis

Pathophysiology

The pathophysiology of arthrogryposis involves the development of joint contractures due to:

• Lack of normal joint movement
• Abnormal development of muscles, tendons, and ligaments
• Fibrosis and fatty infiltration of muscles

The lack of movement in utero leads to the formation of fibrous tissue around the joints, restricting their range of motion.

Clinical Presentation

Patients with arthrogryposis present with:

• Multiple joint contractures
• Muscle weakness
• Deformities of the limbs

The severity and distribution of contractures can vary widely. Commonly affected joints include:

• Shoulders
• Elbows
• Wrists
• Hips
• Knees
• Ankles

Diagnosis

Diagnosis of arthrogryposis is primarily clinical, based on the presence of joint contractures at birth. Further evaluation may include:

• Genetic testing to identify specific syndromes
• Ultrasound or MRI to assess muscle and joint structure
• Electromyography (EMG) to evaluate muscle function

Management

Management of arthrogryposis is multidisciplinary and focuses on improving function and quality of life. Treatment options include:

• Physical therapy to maintain and improve range of motion
• Occupational therapy to enhance daily living skills
• Orthopedic surgery to correct deformities and improve mobility

Prognosis

The prognosis for individuals with arthrogryposis varies depending on the underlying cause and severity of the condition. With appropriate management, many individuals can achieve a good quality of life and functional independence.

Epidemiology

Arthrogryposis is a rare condition, with an estimated incidence of 1 in 3,000 live births. It affects both males and females equally and occurs in all ethnic groups.

See Also

• Congenital disorders
• Musculoskeletal disorders
• Genetic counseling

External Links

• [Arthrogryposis Multiplex Congenita Support, Inc.]
• [National Organization for Rare Disorders]