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Azorean disease(MJD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Azorean neurologic disease; Machado-Joseph Disease; MJD; Nigrospinodentatal degeneration; Spinocerebellar Ataxia Type 3; SPINOCEREBELLAR ATROPHY III; Spinocerebellar atrophy type 3; Spinopontine atrophy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Genetic anticipation
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Concept ID:
Organism Attribute
Source: HPO
The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: MJD - Machado-Joseph disease (91952008); Azorean disease (91952008); Portuguese-Azorean disease (91952008); Machado-Joseph disease (91952008); Machado Joseph disease (91952008); Spinocerebellar ataxia type 3 (91952008)
Gene (location): ATXN3 (14q32.12)
OMIM®: 109150
Orphanet: ORPHA98757


Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [from GeneReviews]

Additional descriptions

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease. Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).
From GHR
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving.Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.

Clinical features

Chronic pain
MedGen UID:
Concept ID:
Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause. Problems that cause chronic pain include. -Headache. -Low back strain. -Cancer. -Arthritis. -Pain from nerve damage. Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification. . NIH: National Institute of Neurological Disorders and Stroke.
Ptosis of eyelid
MedGen UID:
Concept ID:
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Abnormal electrooculogram
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Concept ID:
The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.
Gaze-evoked nystagmus
MedGen UID:
Concept ID:
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
Dysmetric saccades
MedGen UID:
Concept ID:
The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
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Concept ID:
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Muscle cramps
MedGen UID:
Concept ID:
Sign or Symptom
Muscle cramps are sudden, involuntary contractions or spasms in one or more of your muscles. They often occur after exercise or at night, lasting a few seconds to several minutes. It is a very common muscle problem. . Muscle cramps can be caused by nerves that malfunction. Sometimes this malfunction is due to a health problem, such as a spinal cord injury or a pinched nerve in the neck or back. Other causes are. -Straining or overusing a muscle. -Dehydration. -A lack of minerals in your diet or the depletion of minerals in your body. -Not enough blood getting to your muscles. Cramps can be very painful. Stretching or gently massaging the muscle can relieve this pain. .
Distal amyotrophy
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Concept ID:
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAzorean disease
Follow this link to review classifications for Azorean disease in Orphanet.

Professional guidelines


van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies


Eto K, Sumi SM, Bird TD, McEvoy-Bush T, Boehnke M, Schellenberg G
Arch Neurol 1990 Sep;47(9):968-74. PMID: 2396938
Romanul FC, Fowler HL, Radvany J, Feldman RG, Feingold M
N Engl J Med 1977 Jun 30;296(26):1505-8. doi: 10.1056/NEJM197706302962606. PMID: 865531


Goldberg-Stern H, D'jaldetti R, Melamed E, Gadoth N
Neurology 1994 Jul;44(7):1298-301. PMID: 8035934
Takahashi N, Odano I, Nishihara M, Yuasa T, Sakai K
Eur J Nucl Med 1994 Jul;21(7):615-20. PMID: 7957347
Bharucha NE, Bharucha EP, Bhabha SK
Arch Neurol 1986 Feb;43(2):142-4. PMID: 3947253
Fowler HL
Arch Neurol 1984 Sep;41(9):921-5. PMID: 6477227


Takahashi N, Odano I, Nishihara M, Yuasa T, Sakai K
Eur J Nucl Med 1994 Jul;21(7):615-20. PMID: 7957347


Romanul FC, Fowler HL, Radvany J, Feldman RG, Feingold M
N Engl J Med 1977 Jun 30;296(26):1505-8. doi: 10.1056/NEJM197706302962606. PMID: 865531

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