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Diseases » Marie type ataxia » Glossary

Glossary for Marie type ataxia

  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • Acoustic neuroma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Brain conditions: Medical conditions that affect the brain
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Choking: Sensation of blockage or inability to breathe.
  • Coordination and balance conditions: Medical disorders of the systems of balance and coordination.
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Familial hemiplegic migraine:
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Giant axonal neuropathy: A rare genetic disorder characterized by incoordination, vision problems and dementia caused by abnormalities of a nerve cell component.
  • Glucosephosphate isomerase deficiency: A rare inherited condition where a lack of the enzyme glucosephosphate isomerase causes red blood cells to be destroyed prematurely (hemolytic anemia).
  • Hallervorden-Spatz disease: Nerve disorder causing movement problems.
  • Head injury: An injury to the head
  • Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
  • Hypoparathyroidism: A condition where the parathyroid glands don't produce enough parathyroid hormone for normal body functioning. The primary function of these hormones is to regulate body calcium levels.
  • Hyporeflexia: A decreased reflex of the muscles
  • Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • Miller Fisher Syndrome: Autoimmune nerve condition.
  • Movement disorders: Medical conditions affecting the movement systems, such as walking or tremor.
  • Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
  • Muscle tremor: A tremor that is uncontrollable and located in the muscle
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Nystagmus: Involuntary jerky eye movements
  • Paraneoplastic cerebellar degeneration: Disorders of the cerebellum associated with tumors. The cerebellum is the part of the brain that controls coordination. It is believed that the body's immune system's attempt to destroy the tumor results in damage to the cerebellum. The main tumors associated with this condition include lung and breast cancer, Hodgkin's lymphoma and reproductive organ tumors.
  • Pneumonia: Infection of the lung by bacteria, viruses or fungus.
  • Pyruvate carboxylase deficiency:
  • Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
  • Shy-Drager Syndrome: A condition which is characterized by a progressive disease of the brain and spinal cord affecting the autonomic nervous system
  • Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
  • Speech symptoms: Problems with speech or voice.
  • Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
  • Syringobulbia: A neurological disorder that progresses slowly and is characterized by a fluid filled cavity in the spinal cord and brain stem.
  • Unverricht-Lundborg syndrome: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Vasculitis: Inflammation of a blood or lymph vessel
  • Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.


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