What is the definition of Trismus-Pseudocamptodactyly Syndrome?
Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus). TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene. Treatment may involve surgical correction and physical therapy.
What are the alternative names for Trismus-Pseudocamptodactyly Syndrome?
- Hecht syndrome
- Dutch-Kentucky syndrome
- Distal arthrogryposis type 7
- Arthrogryposis distal type 7
What are the symptoms for Trismus-Pseudocamptodactyly Syndrome?
While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4th of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists, club foot, metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth. Children with this syndrome may crawl on their knuckles. In adulthood the syndrome may cause reduced hand dexterity, however hand limitation does not often interfere with normal function. The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation.
What are the current treatments for Trismus-Pseudocamptodactyly Syndrome?
There is no one treatment for trismus-pseudocamptodactyly (TPS), however, there are various strategies that can be used to manage symptoms. Physical and/or occupational therapy may be helpful for individuals experiencing difficulties with walking and hand movement. Surgery may be performed to correct certain musculoskeletal symptoms. There have been reported cases of improvement of mouth mobility following surgery and physical therapy.
What is the outlook (prognosis) for Trismus-Pseudocamptodactyly Syndrome?
Overall individuals with trismus-pseudocamptodactyly syndrome have normal development and life expectancy does not appear to be reduced.