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Neurogenetic conditions

Tuberous sclerosis, neurofibromatosis, Rett syndrome, genetic development disorders, genetic epilepsies, genetic neurodegenerative disorders, other rare and complex neurogenetic conditions.

Understanding the disorder and its importance

Neurogenetic conditions are disorders caused by genetic mutations that primarily affect the nervous system. Tuberous Sclerosis Complex (TSC), neurofibromatosis (NF), and Rett Syndrome are examples of such conditions, each with its unique genetic basis and clinical presentation. Understanding these disorders is crucial because they are typically lifelong conditions that can affect multiple organ systems, with the brain often being significantly impacted. Early diagnosis and management can greatly improve quality of life and long-term outcomes for affected individuals.

Signs and symptoms

The signs and symptoms of neurogenetic conditions can vary widely, even within the same disorder. In tuberous sclerosis, patients may develop benign tumours in multiple organs, including the brain, leading to seizures, developmental delays, and behavioural problems. Skin abnormalities, such as ash-leaf spots or facial angiofibromas, are common. Neurofibromatosis is characterized by the growth of tumours along nerves in the skin, brain and other parts of the body. NF1 often presents with café-au-lait spots on the skin, while NF2 typically involves tumours on the auditory nerves. Rett Syndrome, primarily affecting girls, is marked by normal early development followed by a regression of acquired skills, particularly hand use and speech. Patients often develop stereotypic hand movements, breathing irregularities and seizures.

When to seek neurological assessment

Neurological assessment should be sought if there are signs suggestive of these conditions. For TSC, the onset of seizures in infancy, especially infantile spasms; or the presence of characteristic skin lesions should prompt evaluation. In NF, multiple café-au-lait spots, freckling in the armpits or groin, or the appearance of neurofibromas should lead to assessment. For Rett Syndrome, a loss of previously acquired hand skills and speech, along with the development of repetitive hand movements, particularly in girls between 6-18 months of age, warrants neurological evaluation. Any unexplained developmental delay or regression, especially when accompanied by other systemic signs, should also trigger a neurogenetic workup.

Investigation and treatment strategies

Investigation of neurogenetic conditions typically involves a combination of clinical examination, imaging studies and genetic testing. For TSC, brain MRI can reveal characteristic tubers or subependymal nodules, while genetic testing can identify mutations in the TSC1 or TSC2 genes. NF diagnosis often relies on clinical criteria, with MRI used to assess for central nervous system tumours. Genetic testing can confirm NF1 or NF2 mutations. Rett Syndrome is usually diagnosed clinically, with genetic testing for MECP2 mutations confirming the diagnosis in most cases. Treatment strategies are largely supportive and symptom focused. For TSC, this may include anti-epileptic medications for seizure control, mTOR inhibitors for certain manifestations and surgical interventions for problematic tumours. NF management involves regular monitoring for tumour growth, with surgical removal or other targeted therapies as needed. Rett Syndrome treatment focuses on managing symptoms, including physical therapy, speech therapy and medications for seizures or breathing irregularities. All these conditions require a multidisciplinary approach, with regular follow-ups to address evolving needs and potential complications. Genetic counselling is also an important component of care for affected families.

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