|
Trismus Pseudocamptodactyly Syndrome
Trismus pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to open the mouth completely ( trismus). Other signs and symptoms include abnormally short tendons and muscles, resulting in contractures, club foot, and other musculoskeletal abnormalities. Genetics It is an autosomal dominant condition caused by a mutation in MYH8 Myosin-8 is a protein that in humans is encoded by the ''MYH8'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''ge .... Approximately 60 cases have been reported worldwide. Diagnosis Treatment Treatment is symptomatic in nature. References External links Rare syndromes Musculoskeletal disorders {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trismus
Trismus, commonly called ''lockjaw'' as associated with tetanus, is a condition of limited jaw mobility. It may be caused by spasm of the muscles of mastication or a variety of other causes. Temporary trismus occurs much more frequently than permanent trismus. It is known to interfere with eating, speaking, and maintaining proper oral hygiene. This interference, specifically with an inability to swallow properly, results in an increased risk of aspiration. In some instances, trismus presents with altered facial appearance. The condition may be distressing and painful. Examination and treatments requiring access to the oral cavity can be limited, or in some cases impossible, due to the nature of the condition itself. Definition Trismus is defined as painful restriction in opening the mouth due to a muscle spasm, however it can also refer to limited mouth opening of any cause. Another definition of trismus is simply a limitation of movement. Historically and commonly, the term ''lo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contracture
In pathology, a contracture is a permanent shortening of a muscle or joint. It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy, but can also be due to the congenital abnormal development of muscles and connective tissue in the womb. Contractures develop when normally elastic tissues such as muscles or tendons are replaced by inelastic tissues (fibrosis). This results in the shortening and hardening of these tissues, ultimately causing rigidity, joint deformities and a total loss of movement around the joint. Most of the physical therapy, occupational therapy and other exercise regimens targeted towards people with spasticity focuses on trying to prevent contractures from happening in the first place. However, research on sustained traction of connective tissue in approaches such as adaptive yoga has demonstrated that contracture can be reduced, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Club Foot
Clubfoot is a birth defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic factors. There appears to be hereditary component for this birth d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYH8
Myosin-8 is a protein that in humans is encoded by the ''MYH8'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Mutations in MYH8 are associated with Trismus pseudocamptodactyly syndrome. References Further reading * * * * * * * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
