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Stanford Health Care

Treatment for Clinical Neurogenetic Syndromes

Treatment of Clinical Neurogenetic Syndromes

Specific treatment for clinical neurogenetic syndromes will be determined by your physician based on:

  • Your age, overall health, and medical history
  • Extent of the condition
  • Type of condition
  • Your tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the condition
  • Your opinion or preference

Since clinical neurogenetic syndromes are life-long conditions that are not curable, the focus is on medically managing the symptoms. A person is best treated with an interdisciplinary team that may include the following healthcare providers:

  • Family practitioner
  • Neurologist - A physician who specializes in conditions of the brain, nerves, and spinal cord.
  • Neurosurgeon - A surgeon who specializes in operating on the brain and spinal cord.
  • Orthopaedic surgeon - A surgeon who specializes in conditions of the muscles, tendons, ligaments, and bone.
  • Radiologist – A physician that specializes in using radiation to treat tumors
  • Interventionalist – Physicians that specializes in treating vascular  and organ lesions and diseases using special x-ray machines and  catheters to introduce medicine and devices into vessels or tumors
  • Nurse
  • Rehabilitation team (physical, occupational, speech therapy, audiology)

Surgery may be needed to remove tumors that may be cancerous, as well as for cosmetic reasons.

Life-long considerations

Since clinical neurogenetic syndromes are life-long conditions, management includes focusing on preventing or minimizing deformities and maximizing the person's capabilities at home and in the community. Positive reinforcement will encourage the person to strengthen his/her self-esteem and promote independence.

In children, the full extent of the disease is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Genetic counseling may be recommended by the physician to provide information on the recurrence risks for these disorders and any available testing.