Neurological disorders have complex and diverse manifestations. They are a challenge to diagnose and treat. By integrating genomics into the practice of neurology, we can transform the management and treatment of genetic neurological disorders. Through neurogenetics, we can move towards more precise diagnostic and therapeutic processes that reflect the genetic profiles of individual patients.

Genetics can help us:

  • Find the underlying cause of neurological disorders.
  • Tailor treatment to maximize efficacy and minimize side effects.
  • Detect at-risk individuals early for proactive intervention.

Related Blog: Learn 10 neurological symptoms of genetic disorders.

Genetics for Neurological Diagnosis and Treatment

Duchenne muscular dystrophy, Parkinson’s disease and Huntington’s disease are examples of monogenic neurological diseases (disorders with a single gene). Genomic technology can pinpoint the specific gene mutations responsible for these conditions.

Genetic diagnosis can profoundly change how doctors manage neurological disorders. It offers a definitive diagnosis, informs prognosis, and aids family planning. For diseases like Alzheimer’s and epilepsy, understanding genetic mutations allows for targeted therapies and management strategies that can delay disease progression and enhance quality of life. 

Types of Genetic Neurological Disorders

Neuromuscular Diseases

Neuromuscular diseases affect the muscles and the nerves that control them. They lead to muscle weakness, aches and pains. Some individuals have difficulty moving, speaking, swallowing or breathing. Genetic neuromuscular conditions include:

  • Duchenne muscular dystrophy
  • Spinal muscular atrophy 
  • Emery-Dreifuss muscular dystrophy
  • Limb-girdle muscular dystrophy
  • Dysferlinopathy

Doctors can diagnose these hereditary neurological disorders using genetic testing and muscle biopsies. Corticosteroids, physical therapy and gene therapy may help manage symptoms and increase quality of life.

Peripheral Neuropathies

Peripheral neuropathies happen when damage occurs to the nerves outside of the brain and spinal cord. Muscle weakness and loss of feeling in the hands and feet are common symptoms. Charcot-Marie-Tooth disease is a group of inherited conditions in this category. Nerve conduction studies and genetic testing can diagnose this disorder. Treatment may involve orthopedic devices, pain management and occupational therapy.

Spastic Paraplegias

Spastic paraplegia causes progressive muscle stiffness and weakness, along with overactive reflexes. Symptoms primarily show up in the legs, leading to trouble walking. The cause is often inherited genetic mutations affecting the spinal cord and nerves. There are many types of hereditary spastic paraplegia, which MRIs and genetic testing can diagnose. Physical therapy, muscle relaxers and Botox injections can reduce symptoms and complications.

Movement Disorders

A movement disorder is a neurological condition that results in abnormal voluntary or involuntary movements, such as tremors, tics or impaired coordination. Inherited movement disorders include:

  • Parkinson’s disease, which leads to tremors and rigidity
  • Huntington’s disease, which causes uncontrolled jerking movements
  • Spinocerebellar ataxia, which impacts gait, eye movement and speech.

Doctors may treat these genetic conditions with dopaminergic medication, deep brain stimulation and physiotherapy.


People with epilepsy have recurring, unprovoked seizures caused by abnormal electrical activity in the brain. These seizures vary in intensity and type, affecting motor control, awareness, and behavior. Children with epilepsy can also experience developmental delays. Epilepsy may have genetic causes in 30% to 40% of cases, and studies show that genetic testing can reveal valuable information for treatment. Genetic causes of epilepsy can include:

  • Dravet syndrome
  • Benign familial neonatal epilepsy
  • Ohtahara syndrome
  • CDKL5 deficiency disorder
  • Early infantile epileptic encephalopathy

Treatment can include anti-epileptic drugs, a ketogenic diet, CBD and gene-specific therapies.

Neurodegenerative Diseases

In neurodegenerative diseases, nerve cells in the brain or peripheral nervous system progressively deteriorate and die. This deterioration leads to memory loss and cognitive decline. Alzheimer’s disease, frontotemporal dementia, and frontotemporal lobar degeneration are genetic conditions in this category. Biomarkers, genetic testing and imaging are valuable in diagnosis. 

Cryptogenic Stroke

When the cause of a stroke is unknown—despite medical evaluation—it’s called a cryptogenic stroke. Patients may also have migraines and cognitive impairment. Genetic testing can identify the cause of these strokes and reduce the risk of future strokes. Possible genetic causes include:

  • Cerebral Autosomal Dominant Arteriopathy
  • Aicardi-Goutieres Syndrome
  • Moyamoya Disease

Working Toward a New Era of Genetic Neurological Care

Neurogenetics can usher in a new type of care where genetic insights lead to personalized treatment plans and preventive actions. This change will require healthcare systems to integrate genomic data into electronic health records, making genetic information accessible and actionable. Neurologists, geneticists and other specialists must collaborate closely to deliver holistic care.

Working together, we can improve diagnostic accuracy, treatment outcomes and quality of life for patients with genetic neurological disorders. 

Contact us today to learn about SequenceMD or discuss our genetic evaluation, diagnosis, and health management services.