Search Login Register

Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) Summary

Description: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Also Known As: Spinocerebellar Ataxia Type 3; Joseph Disease; Disease, Joseph; Autosomal Dominant Striatonigral Degeneration; Azorean Disease (Machado-Joseph) Show All >>

Networked: 318 relevant articles (6 outcomes, 30 trials/studies) for this Disease

Key Drugs and Agents for Machado-Joseph Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. polyglutamine : 2 outcomes 4 studies in 158 results : IBA
  2. Trimethoprim (Proloprim) : 2 outcomes 2 studies in 6 results : FDA 73 Generic
  3. Sulfamethoxazole : 2 outcomes 2 studies in 5 results : FDA 75 Generic
  4. Lithium : 2 outcomes in 2 results : IBA
  5. tandospirone : 1 outcome in 5 results : IBA
  6. Serotonin 5-HT1 Receptor Agonists : 1 outcome in 2 results : IBA
  7. Citric Acid (Citrate) : 1 outcome in 2 results : FDA 10 Generic
  8. Lithium Carbonate (Eskalith) : 1 outcome in 2 results : FDA 29 Generic
  9. Gliadin : 1 outcome in 1 result : IBA
  10. Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter) : 3 studies in 4 results : IBA
Show All >>

Diseases Related to Machado-Joseph Disease

  1. Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)
  2. Spinocerebellar Ataxias (Spinocerebellar Ataxia)
  3. Neurodegenerative Diseases (Neurodegenerative Disease)
  4. Ataxia (Dyssynergia)
  5. Atrophy
Show All >>

Key Therapies for Machado-Joseph Disease

Efficacy Chart >>
  1. Occupational Therapy (Therapy, Occupational) : 1 study in 1 result
  2. Transplantation (Transplant Recipients) : 1 result
  3. Injections : 1 result
  4. Vaginal Hysterectomy : 1 result

CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.