Spondylo camptodactyly syndrome
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Spondylo Camptodactyly Syndrome | |
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Symptoms | Camptodactyly, scoliosis, muscle weakness |
Usual onset | Childhood |
Duration | Long-term |
Causes | Genetic (autosomal dominant inheritance) |
Risk factors | Family history of the syndrome |
Diagnostic method | Clinical examination, genetic testing |
Treatment | Symptomatic and supportive |
Frequency | Rare |
Spondylo Camptodactyly Syndrome is a rare genetic disorder characterized by a combination of scoliosis (curvature of the spine), camptodactyly (permanent flexion of one or more fingers), and muscle weakness. The syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder.
Symptoms and Signs[edit | edit source]
The primary features of Spondylo Camptodactyly Syndrome include:
- Camptodactyly: This involves the bending of the fingers at the joints, which cannot be straightened voluntarily.
- Scoliosis: A condition where the spine curves sideways, often leading to discomfort and pain.
- Muscle weakness: Individuals may experience reduced muscle strength, affecting mobility and daily activities.
Causes[edit | edit source]
Spondylo Camptodactyly Syndrome is caused by genetic mutations that follow an autosomal dominant pattern of inheritance. However, the specific genes involved have not been clearly identified.
Diagnosis[edit | edit source]
Diagnosis of Spondylo Camptodactyly Syndrome is primarily based on clinical examination and the presence of characteristic symptoms. Genetic testing may be helpful in confirming the diagnosis, especially in cases where the family history is known.
Treatment[edit | edit source]
There is no cure for Spondylo Camptodactyly Syndrome. Treatment focuses on managing symptoms and may include:
- Physical therapy to improve muscle strength and flexibility.
- Orthopedic interventions, such as braces or surgery, for scoliosis.
- Occupational therapy to assist with daily activities and improve quality of life.
Prognosis[edit | edit source]
The prognosis for individuals with Spondylo Camptodactyly Syndrome varies. While the condition does not typically affect life expectancy, the severity of symptoms can impact the quality of life and require ongoing management.
See Also[edit | edit source]
Spondylo camptodactyly syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD