PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.
What is (are) PURA syndrome ?
<s>[INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) PURA syndrome ? [/INST] \n PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.</s>