Rett Syndrome
Description
Rett syndrome is a rare genetic disorder that primarily affects girls, leading to developmental delays, physical challenges, and communication difficulties. This disorder typically manifests in infancy or early childhood, causing a regression in developmental milestones. While there‘s no cure, early diagnosis and intervention can significantly improve quality of life for individuals with Rett syndrome.
Genes Involved
Rett syndrome is primarily caused by mutations in the MECP2 gene. This gene plays a crucial role in brain development and function. Mutations in this gene disrupt the proper development and function of brain cells.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Rett syndrome is crucial for early diagnosis and intervention. Common symptoms include:
- Developmental regression: Loss of acquired skills such as hand use, speech, and walking.
- Hand wringing or repetitive hand movements: Stereotypical hand movements like hand wringing, clapping, or washing motions.
- Breathing difficulties: Irregular breathing patterns, such as rapid breathing or holding breath.
- Seizures: Seizures can occur in a variety of forms.
- Delayed language development: Difficulty speaking or using language to communicate.
- Cognitive impairments: Learning difficulties, intellectual disability, and challenges with social interaction.
- Scoliosis: Curvature of the spine.
- Gastrointestinal issues: Constipation and difficulty eating.
- Growth issues: Slow growth and smaller than average stature.
Causes
Rett syndrome is caused by mutations in the MECP2 gene, located on the X chromosome. The majority of cases are caused by spontaneous mutations, meaning the mutation is not inherited from a parent. In these cases, the mutation occurs in the egg or sperm cell before conception. However, there is a small chance of inheriting the mutation from a parent who carries the gene.
Inheritance/recurrence risk
Rett syndrome is an X-linked dominant disorder, meaning it is more common in girls. Males with mutations in the MECP2 gene are rarely born because the mutation is lethal in utero. If a mother carries the MECP2 mutation, there is a 50% chance that her daughter will inherit the mutation. However, the severity of Rett syndrome can vary widely, even among daughters who inherit the same mutation.
