Okur-Chung Syndrome is a rare genetic condition that affects various bodily systems. First described in 2016, this neurodevelopmental disorder is characterized by a range of physical, cognitive, and behavioral features. It arises from a specific genetic alteration, impacting an individual’s development from early life. The condition is estimated to affect about one in every 100,000 births globally.
Genetic Origin
Okur-Chung Syndrome stems from changes within the CSNK2A1 gene, located on chromosome 20. This gene provides instructions for creating a protein called CK2, which plays a fundamental part in cellular processes and body development. When a mutation occurs in the CSNK2A1 gene, the CK2 protein may not function as intended, leading to diverse symptoms.
In most instances, the genetic change is a de novo mutation, meaning it occurs spontaneously and is not inherited from either parent. The possibility of parents having another child with Okur-Chung Syndrome due to a de novo mutation is low, estimated at approximately 1%. However, in rare cases, the mutation can be inherited from a parent, indicating an autosomal dominant inheritance pattern. If a parent carries the mutation, there is a 50% chance of passing it on to each child.
Key Characteristics
Individuals with Okur-Chung Syndrome exhibit varied characteristics and severity. Developmental delays are commonly observed, affecting nearly all individuals, particularly in language and motor skills. Speech delay or the inability to speak is a frequently reported concern, and many individuals might be slower to achieve motor milestones like walking. Approximately three-quarters of individuals experience intellectual disability, typically ranging from mild to moderate.
Neurological features include generalized hypotonia (low muscle tone), often noticeable from infancy. This can contribute to clumsiness, gait abnormalities, and poor motor coordination. Seizures occur in about 25% of individuals, with various types reported. Some individuals may also have differences in brain structure visible on imaging.
Common behavioral differences include stereotypic movements, traits associated with autism spectrum disorder, aggressiveness, tantrums, and attention-deficit/hyperactivity disorder (ADHD). Sleep disturbances, often due to disrupted circadian rhythms, are also reported. Physical characteristics include short stature, feeding difficulties from birth, and gastrointestinal issues like reflux and constipation. Minor infections, vision problems (e.g., strabismus), and musculoskeletal issues (e.g., hypermobility, scoliosis) may also be present.
Diagnosis Process
Diagnosing Okur-Chung Syndrome typically begins with a clinical evaluation based on observable characteristics and developmental history. Given the broad nature of many symptoms, genetic testing is the definitive method for confirmation. This testing looks for pathogenic variants within the CSNK2A1 gene.
Molecular genetic testing, such as whole exome sequencing (WES), is often employed to identify the precise genetic change. This allows for comprehensive analysis of genes to pinpoint the mutation. Identifying the genetic cause is important for understanding the condition and guiding management strategies.
Supportive Management
There is no cure for Okur-Chung Syndrome; management focuses on addressing specific symptoms and challenges. A multidisciplinary approach involving various specialists is typically employed. This aims to provide comprehensive, tailored support.
Therapeutic interventions are a key part of management. Physical therapy improves muscle tone, motor skills, and coordination. Occupational therapy assists with fine motor skills and daily living activities. Speech therapy aids communication development, and feeding therapy addresses eating and swallowing difficulties, sometimes necessitating feeding tube placement. Educational support, including individualized education plans, addresses learning differences and promotes academic development.
Medical management addresses issues such as seizures (with anti-seizure medication), growth (potentially with growth hormone therapy for short stature), and gastrointestinal problems.
Outlook and Resources
The long-term outlook for individuals with Okur-Chung Syndrome varies with symptom combination and severity. Early intervention and ongoing supportive therapies maximize developmental potential and improve quality of life. Consistent, individualized support helps individuals navigate challenges and achieve progress.
Families and individuals affected by Okur-Chung Syndrome can find support and information through various resources. Patient advocacy groups, such as the CSNK2A1 Foundation, increase awareness, fund research, and connect affected families. These organizations provide valuable information, facilitate community connections, and offer guidance on living with a rare genetic disorder.