Diagnosis of movement disorders involves taking a family history and a history of symptoms, and performing a physical examination - including neurological examination - and thorough blood and imaging tests.

Blood tests may include a complete blood and a DNA analysis. In some cases, a cerebrospinal fluid (CSF) analysis also is performed, requiring a lumbar puncture or spinal tap followed by microanalysis.

Imaging tests including CT, MRI and Positron Emission Tomography (PET) scans may be used to evaluate for brain abnormalities.

An electromyogram (EMG) and an electroencephalogram (EEG) also may be performed. These tests are used to monitor electrical activity within the body and can help detect nerve and muscle disorders. EMG involves placing electrodes on the skin (surface EMG) or into the muscle (intramuscular EMG) to record electrical activity of the muscle. In an EEG, electrodes are attached to the scalp and connected to a machine that records electrical impulses in the brain.

A muscle biopsy may also be performed to evaluate for muscle disorders. This procedure, which is performed under local anesthesia, involves making a small incision and removing a sample of muscle for microscopic evaluation. Following the procedure, patients may experience minor pain and bruising at the biopsy site.

Symptoms

• Tremors: Tremors are coarse and rhythmic involuntary movements. They usually occur in one hand while the hand is at rest. Emotional stress or fatigue may worsen the tremor. The tremor may eventually progress to the other hand, the arms, and the legs. A tremor may also affect the jaws, tongue, forehead, and eyelids, but not the voice. In some people, a tremor never develops.

• Stiffness: Muscles become stiff, impairing movement. When the forearm is bent back or straightened out by another person, the movement may feel stiff and ratchet-like.

• Slowed movements: Movements become slow and difficult to initiate, people tend to move less and mobility decreases.

• Difficulty maintaining balance and posture: Posture becomes stooped, and balance is difficult to maintain, leading to a tendency to fall forward or backward.