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  3. Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


Title




Other Names:
SANDO
Categories:
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 70595

Definition
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

Epidemiology
The prevalence is unknown.

Clinical description
Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy.

Etiology
The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.

Genetic counseling
Autosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2007

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 45 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal morphology of the cerebellar cortex 0031422
Abnormal thalamic MRI signal intensity 0012696
Atrophy/Degeneration involving the spinal cord 0007344
Bilateral sensorineural hearing impairment 0008619
Dysarthria
Difficulty articulating speech
0001260
Gait ataxia
Inability to coordinate movements when walking
0002066
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Impaired distal proprioception 0006858
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
0002495
Increased serum lactate 0002151
Increased variability in muscle fiber diameter 0003557
Myoclonus 0001336
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ophthalmoparesis
Weakness of muscles controlling eye movement
0000597
Positive Romberg sign 0002403
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Ptosis
Drooping upper eyelid
0000508
Ragged-red muscle fibers 0003200
Sensory ataxic neuropathy 0003434
Upgaze palsy 0025331
Vestibular dysfunction 0001751
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Depressivity
Depression
0000716
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Gastroparesis
Delayed gastric emptying
0002578
Intestinal pseudo-obstruction 0004389
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
0002354
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
0002076
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Cytochrome C oxidase-negative muscle fibers 0003688
Diminished ability to concentrate
Poor concentration
0031987
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
0003236
Impaired distal vibration sensation 0006886
Mildly elevated creatine kinase 0008180
Multiple mitochondrial DNA deletions 0003689
Muscle fiber necrosis 0003713
Progressive external ophthalmoplegia 0000590
Progressive gait ataxia 0007240
Sensorineural hearing impairment 0000407
Sensory axonal neuropathy 0003390
Subsarcolemmal accumulations of abnormally shaped mitochondria 0003548
Showing of 45 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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