Spondyloepiphyseal dysplasia tarda

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Spondyloepiphyseal Dysplasia Tarda
Specialty	Orthopedics, Genetics
Symptoms	Short stature, spinal deformities, joint pain
Complications	Arthritis, Scoliosis, Osteoarthritis
Usual onset	Childhood or adolescence
Duration	Lifelong
Causes	Genetic mutations (X-linked recessive)
Diagnostic method	Clinical examination, genetic testing, X-rays
Differential diagnosis	Spondyloepiphyseal dysplasia congenita, Achondroplasia, Osteogenesis imperfecta
Treatment	Symptomatic (physical therapy, orthopedic interventions)
Prognosis	Variable
Frequency	Rare

Spondyloepiphyseal Dysplasia Tarda (SED tarda) is a rare genetic disorder characterized by short stature, spinal deformities, and problems with the ends of bones that develop from growth plates (epiphyses). It primarily affects males and usually becomes apparent in late childhood or adolescence.

Symptoms and Signs

Individuals with Spondyloepiphyseal Dysplasia Tarda often present with a short trunk, short stature, and muscle weakness. Spinal abnormalities such as scoliosis (curvature of the spine) and lordosis (excessive inward curvature of the spine) are common. Joint pain and early onset osteoarthritis can occur due to abnormal development of the epiphyses. Some individuals may also experience vision and hearing problems.

Causes

SED tarda is most commonly inherited in an X-linked recessive pattern, which means the condition is caused by mutations in a gene on the X chromosome. The responsible gene is often the TRAPPC2 gene. Because males have only one X chromosome, a single altered copy of the gene in each cell is sufficient to cause the disorder. Females, having two X chromosomes, are typically carriers and usually do not show symptoms.

Diagnosis

Diagnosis of Spondyloepiphyseal Dysplasia Tarda involves a thorough clinical examination, family history, and radiographic findings. X-rays can reveal characteristic skeletal abnormalities, particularly in the spine and long bones. Genetic testing can confirm a diagnosis by identifying a mutation in the TRAPPC2 gene.

Treatment

There is no cure for Spondyloepiphyseal Dysplasia Tarda, and treatment focuses on managing symptoms and improving quality of life. Physical therapy may help strengthen muscles and improve mobility. Orthopedic interventions, such as surgery, may be necessary to correct skeletal deformities and alleviate pain. Regular monitoring for complications like scoliosis and joint problems is important.

Prognosis

The prognosis for individuals with Spondyloepiphyseal Dysplasia Tarda varies. While the condition does not typically affect life expectancy, it can significantly impact quality of life through chronic pain and mobility issues. Early intervention and supportive care can help manage symptoms and reduce the risk of complications.

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