Rare Medical News

Advertisement

Disease Profile

Spinocerebellar ataxia 25

Prevalence
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.

<1 >

331

US Estimated

514

Europe Estimated

Age of onset

All ages

ageofonset-all.svg
ageofonset-all.svg

ICD-10

G11.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

rnn-autosomaldominant.svg

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.

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

SCA25; Spinocerebellar ataxia type 25

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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

Orpha Number: 101111

Definition
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

Epidemiology
Fewer than 10 cases in a 4-generation French family have been reported to date.

Clinical description
Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal (GI) disorders such as vomiting and abdominal pain as initial symptoms. GI problems can persist. Scoliosis and urinary problems (nycturia or urinary urgency) are also observed. Head magnetic resonance imaging (MRI) shows severe global cerebellar atrophy like in SCA5 and SCA6 (see these terms).

Etiology
SCA25 maps to chromosome 2p15-p21. Repeat expansion detection failed to identify CAG repeat expansion.

Prognosis
There is insufficient clinical data to draw conclusions concerning prognosis.

Visit the Orphanet disease page for more resources.

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
80%-99% of people have these symptoms
Progressive cerebellar ataxia
0002073
30%-79% of people have these symptoms
Abnormal morphology of the cerebellar cortex
0031422
Areflexia of lower limbs
0002522
Babinski sign
0003487
Decreased number of large peripheral myelinated nerve fibers
0003387
Diffuse cerebellar atrophy
0100275
EMG: neuropathic changes
0003445
Facial tics
Cramping of facial muscles
Facial spasms
Jerking of facial muscles
Mimic spasms
Spasms of facial muscles
Twitching of facial muscles

[ more ]

0011468
Gait ataxia
Inability to coordinate movements when walking
0002066
Impaired distal tactile sensation
Decreased touch sensation in extremities
0006937
Impaired pain sensation
Decreased pain sensation
0007328
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pes cavus
High-arched foot
0001761
Reduced visual acuity
Decreased clarity of vision
0007663
Scoliosis
0002650
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Spastic dysarthria
0002464
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Urinary urgency
Overactive bladder
0000012
5%-29% of people have these symptoms
Episodic abdominal pain
0002574
Facial myokymia
Involuntary facial quivering
0000317
Vomiting
Throwing up
0002013
Percent of people who have these symptoms is not available through HPO
Abolished vibration sense
0006944
Ataxia
0001251
Autosomal dominant inheritance
0000006
Cerebellar atrophy
Degeneration of cerebellum
0001272
Decreased number of peripheral myelinated nerve fibers
0003380
Dysarthria
Difficulty articulating speech
0001260
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505

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

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      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

        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 Spinocerebellar ataxia 25. Click on the link to view a sample search on this topic.