Artrogryposis multiplex congenita (AMC) is a congenital muscle and joint disorder. It occurs when the muscles and joints fail to develop normally before or after birth, resulting in limited joint movements or the absence of certain joint movements. The exact cause of AMC is unknown, but genetic factors are believed to play a role. Some cases may be associated with environmental factors the mother is exposed to during pregnancy. The treatment for AMC can vary depending on the individual’s symptoms and deformities, and may include physiotherapy, exercises, orthopedic devices, and surgical intervention. Individuals living with AMC should be monitored by a multidisciplinary healthcare team and can receive support and rehabilitation throughout their lives.
Causes of Artrogryposis Multiplex Congenita
The exact causes of artrogryposis multiplex congenita are unknown, but it is believed that various factors can contribute to this condition:
Genetic Mutations: Many forms of AMC can occur due to genetic mutations.
Maternal Factors: Certain environmental factors that the mother is exposed to during pregnancy can increase the risk of AMC.
Maternal Age: It has been suggested that the mother’s age can increase the risk of AMC.
Chromosomal Anomalies: Some cases of AMC have been associated with chromosomal abnormalities.
Medications and Toxins: Exposure to certain medications or toxins during pregnancy can affect fetal development and increase the risk of AMC.
Intrauterine Constraint: The baby may experience restrictions in joint and muscle development due to limited movement in the mother’s womb.
Symptoms of Artrogryposis Multiplex Congenita
The symptoms of artrogryposis multiplex congenita can vary depending on the severity of the disease, which joints and muscle groups are affected, and other factors:
- Joint contractures
- Muscle weakness
- Deformities
- Facial deformities
- Spinal curvature
- Speech and hearing problems
- Internal organ problems
Diagnosis of Artrogryposis Multiplex Congenita
The diagnosis of artrogryposis multiplex congenita is made using a series of clinical evaluations and laboratory tests:
Physical Examination: A doctor evaluates the patient’s physical symptoms.
Family History: If there is a history of AMC or similar congenital disorders in the family, this information is included in the diagnostic process.
Imaging Tests: Imaging tests such as X-rays, magnetic resonance imaging (MRI), or ultrasound may be used.
Genetic Tests: Genetic tests may be performed to investigate the genetic causes of AMC.
Muscle Biopsy: In rare cases, a muscle biopsy may be performed.
Electromyography: Electromyography (EMG) is a test that evaluates the electrical activity of muscles.
Treatment of Artrogryposis Multiplex Congenita
The treatment of artrogryposis multiplex congenita can vary depending on the individual’s symptoms, severity, and which joints and muscle groups are affected:
Physiotherapy and Rehabilitation: Physiotherapy is a fundamental component of AMC treatment.
Orthopedic Devices and Splints: Specially designed orthopedic devices can be used.
Surgical Intervention: Surgical intervention may be required in severe cases of AMC or when there are significant deformities in the hands or feet.
Medication: Certain medications may be used to alleviate AMC symptoms.
Nutrition and Diet: Individuals with AMC can receive guidance on nutrition and supplements to support muscle health and increase energy levels.
Psychosocial Support: Psychosocial support is crucial for individuals with AMC and their families.
Management of Artrogryposis Multiplex Congenita
The management of artrogryposis multiplex congenita is personalized based on the individual’s symptoms, severity, and age:
Multidisciplinary Healthcare Team: The management of AMC should be carried out by a multidisciplinary healthcare team.
Physiotherapy and Rehabilitation: Physiotherapy is a fundamental component of AMC treatment.
Orthopedic Devices and Splints: Specially designed orthopedic devices or splints can be used to correct joint contractures or deformities.
Surgical Intervention: Surgical intervention may be required in severe cases of AMC or when there are significant deformities in the hands or feet.
Medication: Certain medications may be used to alleviate AMC symptoms.
Nutrition and Diet: Individuals with AMC should follow a healthy eating plan and may require nutritional supplements.
Psychosocial Support: Psychosocial support should be provided for individuals with AMC and their families.
Educational and Awareness: Both patients and their families should be knowledgeable about AMC and learn how to cope with the disease.
