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Neurogenetic Disorders Specialist

Shankle Clinic

Neurology Specialists located in Newport Beach, CA

If your baby or child exhibits troubling symptoms, such as seizures or limb weakness, they may have a neurogenetic disorder that could worsen with time. Under the direction of William Shankle, MS, MD, FACP, the caring neurologists at Shankle Clinic evaluate and test your child so that they get the diagnosis and treatment they need. Depending on the type of neurogenetic disorder your child has, the doctors recommend supportive therapies, medications, or even participation in a clinical trial. To find out how to help your child, contact Shankle Clinic located within the Hoag Neurosciences Institute in Newport Beach, California. You can book online or by calling the office today.

Neurogenetic Disorders Q & A

What is a neurogenetic disorder?

If your child has a neurogenetic disorder, at least one of the genes and chromosomes that affects their brain, spinal cord, or nerves is defective. Neurogenetic disorders can cause severe or progressive symptoms and disability. 

A few of the many types of neurogenetic disorders include:

  • Huntington’s disease
  • Autism spectrum disorder
  • Epilepsy and seizures
  • Muscular dystrophies
  • Neurofibromatosis
  • Spinocerebellar ataxia
  • Spinal muscular atrophy
  • Charcot-Marie-Tooth neuropathies
  • Metabolic disorders

Even though these disorders are genetic in nature, they’re not all inherited. Your child may have been born with a faulty gene that never appeared in a prior generation. Neurogenetic disorders affect all races and sexes and typically causes noticeable symptoms early in life.

What are the symptoms of neurogenetic disorders?

A child who has a neurogenetic disorder may have developmental delays and may not meet normal milestones, such as crawling, walking, and speaking. 

Symptoms may include:

  • Seizures
  • Muscle weakness
  • Abnormal or involuntary movements 
  • Trouble hearing or seeing
  • Head growing too slowly or too rapidly

However, symptoms vary widely from child to child and may change over time. Although most symptoms get progressively worse, some children improve as they grow older.

How do neurologists diagnose neurogenetic disorders?

The expert neurologists at Shankle Clinic take a complete family and personal medical history. They then conduct a thorough physical examination and conduct a series of tests, which may include:

  • Blood tests
  • Urine tests
  • Spinal tap
  • MRI of the brain and nerves
  • Biopsy of skin, liver, or muscle
  • Genetic testing

Once the results are ready, your neurologist diagnoses your child’s neurogenetic disorder and devises a customized treatment plan.

How do neurologists treat neurogenetic disorders?

Most neurogenetic disorders and diseases can’t be cured. If your child’s disorder is inherited, your doctors counsel you about the risks involved if you plan to have other children in the future.

Neurogenetic disorders encompass a wide variety of conditions and diseases, so treatments are aimed toward controlling symptoms and slowing progression whenever possible. Your doctors may recommend:

  • Behavioral therapy
  • Cognitive therapy
  • Occupational therapy
  • Speech therapy
  • Learning aids
  • Medications

In some cases, your child may have tumors that require surgical removal. Your child may qualify for a clinical trial for gene therapy or other new treatments and medications. 

If your child isn’t meeting their milestones or has symptoms of a neurogenetic disorder, get a comprehensive evaluation, diagnosis, and treatment at Shankle Clinic today. Phone the helpful office team or use the online booking form.