Familial Dandy Walker Syndrome is a rare genetic disorder characterized by abnormal development of the brain, particularly the cerebellum, which is responsible for coordinating movement and maintaining balance. This condition typically runs in families and is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.
The hallmark symptom of Familial Dandy Walker Syndrome is the presence of a cystic space in the back of the brain, called the Dandy Walker malformation, which is caused by underdevelopment of specific brain structures. This malformation can lead to a range of neurological symptoms, including delayed motor development, muscle weakness, coordination difficulties, and problems with balance and gait. Individuals with this syndrome may also experience intellectual disability, speech and language delays, seizures, and abnormalities of the eyes, face, and ears.
Diagnosis of Familial Dandy Walker Syndrome is often made through imaging studies, such as magnetic resonance imaging (MRI) of the brain, which reveals the characteristic malformation. Genetic testing can also be utilized to confirm the presence of specific gene mutations associated with the syndrome.
Treatment for Familial Dandy Walker Syndrome aims to manage the symptoms and complications associated with the condition. This may involve physical therapy to improve motor skills and balance, speech therapy to address communication difficulties, and medications to control seizures. Depending on the severity of the syndrome, individuals may require lifetime assistance and support to optimize their overall functioning and quality of life.
