What are the best treatments for Autosomal recessive multiple pterygium syndrome / Escobar syndrome?

Autosomal recessive multiple pterygium syndrome (AR-MPS), also known as Escobar syndrome, is a rare genetic disorder characterized by multiple joint contractures (pterygia), webbing of the skin, and other physical abnormalities. It is caused by mutations in the CHRNG gene, which is involved in the development of the neuromuscular junction.

As a genetic disorder, there is currently no cure for AR-MPS/Escobar syndrome. However, there are various treatments and interventions available to manage the symptoms and improve the quality of life for individuals with this condition. The treatment approach is typically multidisciplinary, involving a team of healthcare professionals including geneticists, orthopedic surgeons, physical therapists, and occupational therapists.

Physical therapy and occupational therapy:

Physical therapy and occupational therapy play a crucial role in the management of AR-MPS/Escobar syndrome. These therapies aim to improve joint mobility, muscle strength, and functional abilities. Physical therapists may use stretching exercises, range of motion exercises, and strengthening exercises to help improve joint contractures and muscle weakness. Occupational therapists focus on activities of daily living, such as self-care skills, fine motor skills, and adaptive equipment to enhance independence and quality of life.

Orthopedic interventions:

Orthopedic interventions are often necessary to address the joint contractures and skeletal abnormalities associated with AR-MPS/Escobar syndrome. These interventions may include:

• Serial casting: This involves the application of a series of casts to gradually stretch and improve joint mobility.


• Tendon release surgery: In severe cases, surgical release of tight tendons may be necessary to improve joint function.


• Orthopedic bracing: Customized braces or splints may be used to maintain joint alignment and prevent further contractures.


• Orthopedic surgeries: In some cases, corrective surgeries may be required to address skeletal abnormalities, such as scoliosis or hip dislocation.

Respiratory support:

Individuals with AR-MPS/Escobar syndrome may experience respiratory difficulties due to chest wall abnormalities and muscle weakness. Respiratory support measures may include:

• Assisted ventilation: Some individuals may require mechanical ventilation to assist with breathing.


• Chest physiotherapy: Techniques such as chest percussion and postural drainage may be used to help clear secretions and improve lung function.

Genetic counseling:

Genetic counseling is an essential component of the management of AR-MPS/Escobar syndrome. Genetic counselors can provide information about the inheritance pattern, recurrence risks, and available genetic testing options. They can also offer emotional support and guidance to affected individuals and their families.

Supportive care:

Supportive care is crucial in managing the overall well-being of individuals with AR-MPS/Escobar syndrome. This may include:

• Pain management: Individuals with joint contractures may experience pain, and appropriate pain management strategies should be implemented.


• Assistive devices: The use of assistive devices such as wheelchairs, orthotic devices, and adaptive equipment can enhance mobility and independence.


• Psychosocial support: AR-MPS/Escobar syndrome can have a significant impact on the emotional well-being of affected individuals and their families. Psychosocial support, including counseling and support groups, can help address the psychological and social challenges associated with the condition.

In conclusion, while there is no cure for Autosomal recessive multiple pterygium syndrome/Escobar syndrome, a multidisciplinary approach involving physical therapy, occupational therapy, orthopedic interventions, respiratory support, genetic counseling, and supportive care can help manage the symptoms and improve the quality of life for individuals with this condition.