Genetic consultation in the field of Neurogenetics


Neurogenetic disorders are conditions caused by changes in genes and chromosomes. These conditions affect the brain, spinal cord, nerves and muscles. Neurogenetic disorders can create health problems at birth or later in childhood.

There are many different types of neurogenetic disorders. While these conditions are rooted in genetic changes, not all of them are inherited. Types of neurogenetic disorders include:

  • Autism Spectrum Disorder
  • Brain Malformations
  • Developmental Delay
  • Intellectual and Cognitive Disability
  • Parkinson’s Disease
  • Epilepsy and Seizures (genetic forms)
  • Metabolic Disorders
  • Neurocutaneous Disorders (for example, Neurofibromatosis)
  • Neuromuscular Disorders
  • Pediatric Stroke
  • Neurodegenerative Disorders

Reasons for genetic consultation in the field of Neurogenetics

A genetic cause may be considered in the development of different neurological disorders (e.g., Hereditary Motor and Sensory Neuropathies (HMSN), Hereditary Spastic Paraplegia (HSP), Muscular Dystrophies (such as Duchenne, Becker), Hereditary Muscular Atrophies (such as SMA), Fragile X-Associated Tremor-/Ataxia Syndrome (FXTAS), Fragile X-Associated Neuropsychiatric Disorders (FXAND), Spinocerebellar Ataxias, Chorea Huntington, epilepsy syndromes)

We offer genetic consultation, testing, and diagnostics in all cases of a suspected hereditary neurological or muscular disorder, as well as epilepsy syndromes.

Can we help you? Make an enquiry today.

What is Neurogenetics?

Not every neurological diagnosis is straightforward. For example, some patients might exhibit the characteristic tremors and motor control issues of Parkinson’s disease, but they also might have other symptoms, such as memory problems, which are not common in Parkinson’s patients.

In these difficult-to-diagnose cases, patients are often referred to a neurogeneticist, where they receive a more precise diagnosis of the genetic factors underlying their neurological condition.

Neurogenetics deals with adult and paediatric patients. Among adults, most of the patients have some kind of neurodegenerative disease (progressive damage to cells in the brain and/or nervous system), neuromuscular disorders, or a genetic form of epilepsy (repeated seizures). Among children, the most commonly treated patients have some kind of mental development delay, autism spectrum disorder, neuromuscular disorder, or seizures.

Neurogenetics is a field that uses recent advances in genome sequencing in order to better understand the causes of brain and nerve disorders. This can help patients determine the extent to which their genetic material plays a role in their condition and help health care professionals advance the concept of personalised clinical care by creating highly tailored treatment programmes for each patient with a comprehensive understanding of the patient’s genetic profile and medical history.

Can we help you? Make an enquiry for Genetic consultation in the field of Neurogenetics today.

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