Marie type ataxia
Overview
An inherited brain disorder that affects muscle coordination
Symptoms
* Limb motor deficits * Increased falls * Discoordination * Muscle tremors * Speech difficulty
Causes
* Bilateral frontoparietal polymicrogyria * Hypoparathyroidism * Joubert syndrome * Arsenic trioxide * Ataxia telangiectasia
Diagnosis
1. Is there vertigo, tinnitus, or deafness? Any one of these three signs and symptoms should suggest Ménière's disease or other labyrinthine disease as well as eighth nerve pathology. 2. Are there headaches, nystagmus, or papilledema? These signs should suggest a cerebellar tumor or acoustic neuroma. 3. Are there other neurologic signs? If there are long tract signs such as hyperactive reflexes and loss of vibratory or position sense, one should consider multiple sclerosis, pernicious anemia, or basilar artery insufficiency. If there are glove and stocking hypoesthesia and hypoactive reflexes, one should consider peripheral neuropathy or tabes dorsalis. 4. Is the ataxia worse in the dark? This is a sign that the dorsal column or peripheral nerve is affected, and one should look for peripheral neuropathy, pernicious anemia, multiple sclerosis, and Friedreich's ataxia. One should also look for tabes dorsalis. 5. Is there a secondary gain? Hysterical patients and patients who are malingering will often show a completely normal neurologic examination, but be unable to walk or stand without staggering. The author has been particularly impressed with patients applying for long-term disability who stagger a great deal without support, but as soon as support in the form of a cane is given, their ataxia completely clears up.
Treatment
* Specific symptomatic measures to improve gait stability and efficiency may improve functional abilities –Assistive devices (e.g., canes, walkers, wheelchairs) –Orthotics (e.g., ankle-foot orthoses for foot drop) –Physical therapy - Removing intoxicating substances if present * Orthopedic pathologies may be resolved by rest, casting or orthotics, NSAIDs, or surgical therapy * Peripheral neuropathy/mononeuropathy: Treat the underlying cause to improve gait or prevent worsening * Radiculopathy: Physical therapy, medications (e.g., NSAIDs, muscle relaxants), local injection therapies (e.g., epidural injections), and/or surgical intervention * Myelopathy: Treating the underlying cause may improve or prevent worsening of gait; spasticity may be treated with antispasticity agents (e.g., baclofen) * Structural lesions of the brainstem, cerebellum, or cerebrum should be identified and treated if possible (e.g., multiple sclerosis)