National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spinocerebellar ataxia 34


Other Names:
SCA34; Giroux Barbeau Syndrome; Erythrokeratodermia - ataxia; SCA34; Giroux Barbeau Syndrome; Erythrokeratodermia - ataxia; Erythrokeratodermia with ataxia See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1955

Definition
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

Epidemiology
To date the disorder has been reported in 45 patients including 4 asymptomatic carriers, from one French-Canadian family and three Japanese families.

Clinical description
Disease onset occurs from shortly after birth to adolescence with the appearance of papulosquamous, ichthyosiform plaques on the limbs, which are often only present in the winter. After the age of 25 years they tend to disappear completely. Progressive ataxia, dysarthria, decreased reflexes, and nystagmus are further clinical signs of the disease that occur after the onset of skin manifestations, generally from the third to fifth decade of life. Patients occasionally present with autonomic dysfunction and pyramidal signs. Cerebellar and pontine atrophy is visible with magnetic resonance imaging (MRI) in individuals who develop cerebellar ataxia.

Etiology
The disorder is due to a mutation in the ELOVL4 gene (6q14).

Diagnostic methods
Diagnosis is based on characteristic clinical findings (skin lesions occurring shortly after birth and adult-onset slowly progressive cerebellar ataxia), and on the molecular genetic testing. Mutations in the ELOVL4 gene confirms diagnosis of SCA34. Magnetic resonance imaging usually shows marked atrophy of the cerebellum and pontine which is sometimes accompanied by Hot Cross Bun sign that is common in cerebellar type of multiple system atrophy.

Differential diagnosis
Differential diagnoses include other forms of autosomal dominant cerebellar ataxia. From the view point of radiological findings, multiple system atrophy is important in differential diagnosis, especially in patients who also develop autonomic dysfunction.

Antenatal diagnosis
Antenatal diagnosis is possible in families with a known ELOVL4 mutation.

Genetic counseling
The disorder is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.

Management and treatment
Treatment is only supportive. Physical activity should be maintained as much as possible with the help of prosthetic devices. Motorized chairs/scooters are eventually necessary. Speech therapy and communication devices should be offered to those with severe dysarthria.

Prognosis
Disease progression is slow; the patients require cane or walker in their late 60s, and wheelchair in their 70s.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2020

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dry skin 0000958
Dysarthria
Difficulty articulating speech
0001260
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Macule
Flat, discolored area of skin
0012733
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Papule 0200034
Progressive cerebellar ataxia 0002073
Urticaria
Hives
0001025
5%-29% of people have these symptoms
Abnormality of the musculature
Muscular abnormality
0003011
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Fasciculations
Muscle twitch
0002380
Intention tremor 0002080
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
1%-4% of people have these symptoms
Peripheral axonal neuropathy 0003477
Percent of people who have these symptoms is not available through HPO
Abnormal pyramidal sign 0007256
Abnormality of the skin 0000951
Autosomal dominant inheritance 0000006
Cerebellar atrophy
Degeneration of cerebellum
0001272
Gait ataxia
Inability to coordinate movements when walking
0002066
Hyperkeratosis 0000962
Hyperreflexia
Increased reflexes
0001347
Impaired smooth pursuit 0007772
Incomplete penetrance 0003829
Limb ataxia 0002070
Supranuclear gaze palsy 0000605
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Last updated: 7/1/2020

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

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

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.

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 34. Click on the link to view a sample search on this topic.

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