Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Title

Other Names:

SANDO

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary Summary

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

Orpha Number: 70595

Disease 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: 6/22/2007

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Cataract	Occasional (present in 5%-29% of cases)
Adult onset	-
Areflexia	-
Atrophy/Degeneration involving the spinal cord	-
Autosomal recessive inheritance	-
Cognitive impairment	-
Cytochrome C oxidase-negative muscle fibers	-
Depression	-
Dilated cardiomyopathy	-
Dysarthria	-
Gastroparesis	-
Hyporeflexia	-
Impaired distal proprioception	-
Impaired distal vibration sensation	-
Increased serum lactate	-
Increased variability in muscle fiber diameter	-
Intestinal pseudo-obstruction	-
Migraine	-
Mildly elevated creatine phosphokinase	-
Multiple mitochondrial DNA deletions	-
Muscle fiber necrosis	-
Myoclonus	-
Nystagmus	-
Phenotypic variability	-
Positive Romberg sign	-
Progressive external ophthalmoplegia	-
Progressive gait ataxia	-
Proximal muscle weakness	-
Ptosis	-
Ragged-red muscle fibers	-
Seizures	-
Sensorineural hearing impairment	-
Sensory ataxic neuropathy	-
Sensory axonal neuropathy	-
Subsarcolemmal accumulations of abnormally shaped mitochondria	-
Vestibular dysfunction	-

Last updated: 10/1/2017

Diagnosis 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.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

Research Research

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.

Patient Registry

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. The North American Mitochondrial Disease Consortium (NAMDC) has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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 Genetics Home Reference.

Learn More 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

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.

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