Arthrogryposis with oculomotor limitation and electroretinal abnormalities
= Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities =
Arthrogryposis with oculomotor limitation and electroretinal abnormalities is a rare genetic disorder characterized by congenital joint contractures, restricted eye movements, and abnormalities in the electrical responses of the retina. This condition is part of a group of disorders known as arthrogryposis, which involve multiple joint contractures present at birth.
Clinical Features[edit | edit source]
Arthrogryposis[edit | edit source]
Arthrogryposis refers to the presence of multiple joint contractures that affect two or more areas of the body. In this condition, the contractures are typically present at birth and can affect both the upper and lower limbs. The severity of the contractures can vary, leading to limitations in movement and function.
Oculomotor Limitation[edit | edit source]
Individuals with this condition often exhibit restricted eye movements, known as oculomotor limitation. This can result in difficulties with eye tracking and coordination, potentially affecting vision and depth perception.
Electroretinal Abnormalities[edit | edit source]
Electroretinal abnormalities refer to atypical electrical responses in the retina, which can be detected through an electroretinogram (ERG). These abnormalities may indicate dysfunction in the retinal cells, potentially leading to visual impairment.
Genetic Basis[edit | edit source]
The genetic basis of arthrogryposis with oculomotor limitation and electroretinal abnormalities is not fully understood. However, it is believed to be caused by mutations in specific genes that are involved in the development and function of muscles, nerves, and the retina. Genetic testing and counseling may be recommended for affected individuals and their families.
Diagnosis[edit | edit source]
Diagnosis of this condition typically involves a combination of clinical evaluation, imaging studies, and specialized tests such as an electroretinogram. Genetic testing may also be conducted to identify any underlying genetic mutations.
Management[edit | edit source]
Management of arthrogryposis with oculomotor limitation and electroretinal abnormalities is multidisciplinary and may include:
- Physical therapy to improve joint mobility and muscle strength.
- Orthopedic interventions to address joint contractures.
- Ophthalmologic care to monitor and manage eye movement limitations and visual function.
- Genetic counseling for affected individuals and their families.
Prognosis[edit | edit source]
The prognosis for individuals with this condition varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and a comprehensive management plan can help improve quality of life and functional outcomes.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Arthrogryposis with oculomotor limitation and electroretinal abnormalities is a rare disease.
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Contributors: Prab R. Tumpati, MD
