The adult Neurogenetics Clinic was established in 2003 to serve the needs of patients with inherited neurological diseases. There are four aims of the clinic:

• accurate genetic diagnosis where possible
• symptom management
• identification of complications of disease and their prevention if possible
• access to research trials.

Diagnosis

Methods of diagnosis are similar to those of general neurology in that a careful clinical history and examination are undertaken. Tests such as laboratory testing of blood or urine, neurophysiology or imaging testing are often performed first to clarify which genetic test is most appropriate or may be used in place of a genetic diagnosis if such tests are technically difficult or unavailable. Depending on availability of reliable test results, genetic tests are performed locally at Labplus Auckland, at the Christchurch DHB, a lab in Australasia or sent to Europe or the USA.

Symptom Management

These will vary from condition to condition. Some commonly treatable symptoms include seizures, spasticity (stiff legs), pain or other abnormal sensations and bladder instability. Orthotic treatment with splinting can also be effective.

A multidisciplinary clinic run through Rehab Plus outpatients has been established to help patients with these rare conditions.

Prevention of Complications

Some conditions have effects beyond the nervous system such as on the heart, breathing or hormones. Many of these are preventable or manageable. To manage these many different aspects, a one-stop multidisciplinary clinic involving a cardiologist, chest physician and geneticist is held a few times a year for patients whose conditions overlap with these specialties.

Research

Where international research can include local participation this is facilitated through the Clinic. Local studies in Huntington’s Disease and Friedreich’s ataxia are underway.

Further Information

www.mda.org.nz

www.huntingtons.org.nz