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Disease Profile
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Adult
ICD-10
G71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SANDO
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 70595
Symptoms
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal morphology of the cerebellar cortex | 0031422 | |
Abnormal thalamic |
0012696 | |
Atrophy/Degeneration involving the spinal cord | 0007344 | |
Bilateral sensorineural hearing impairment | 0008619 | |
Difficulty articulating speech
|
0001260 | |
Gait |
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 | |
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 |
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 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Depressivity |
Depression
|
0000716 |
Dilated |
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 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
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 |
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 |
0003548 |
Diagnosis
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.
Learn more
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.