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  3. Refsum disease, infantile form
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Refsum disease, infantile form


Title


Other Names:
Infantile Refsum disease; IRD; Infantile form of phytanic acid storage disease
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases See More
This disease is grouped under:
Leukodystrophy; Peroxisome biogenesis disorder-Zellweger syndrome spectrum

Summary Summary


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Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements.[1][2]  Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies.[2] IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner.  Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible.[1] Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.[2]
Last updated: 5/20/2015

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 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Constriction of peripheral visual field
Limited peripheral vision
0001133
Elevated levels of phytanic acid 0010571
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ]
0000662
Progressive muscle weakness 0003323
Rod-cone dystrophy 0000510
Short stature
Decreased body height
Small stature
[ more ]
0004322
Very long chain fatty acid accumulation 0008167
30%-79% of people have these symptoms
Ataxia 0001251
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment 0000407
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
5%-29% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Facial palsy
Bell's palsy
0010628
Ichthyosis 0008064
Optic atrophy 0000648
Seizures
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding
Bleeding tendency
0001892
Abnormal electroretinogram 0000512
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ]
0000457
Flat face
Flat facial shape
0012368
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hypocholesterolemia
Decreased circulating cholesterol level
0003146
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Malar flattening
Zygomatic flattening
0000272
Osteoporosis 0000939
Polyneuropathy
Peripheral nerve disease
0001271
Single transverse palmar crease 0000954
Steatorrhea
Fat in feces
0002570
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

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 Genetics Home Reference.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy. IRD should not be confused with adult Refsum disease (see this term).
Visit the Orphanet disease page for more information.

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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Refsum disease, infantile form. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Refsum disease, infantile form:
    The National Registry for Ichthyosis & Related Skin Disorders
     

Organizations Organizations


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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

  • Global Foundation for Peroxisomal Disorders
    5147 South Harvard Avenue
    Suite 181
    Tulsa, OK 74135
    Telephone: 347-470-4373
    Fax: 918-516-0227
    E-mail: contactus@thegfpd.org
    Website: http://www.thegfpd.org
  • United Leukodystrophy Foundation (ULF)
    224 North Second Street
    Suite 2
    DeKalb, IL 60115
    Toll-free: 800-728-5483
    Telephone: 815-748-3211
    Fax: 815-748-0844
    E-mail: office@ulf.org
    Website: http://www.ulf.org/
Do you know of an organization? We want to hear from you.

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.

In-Depth Information

  • 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 Refsum disease, infantile form. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

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.

References References


  1. Nancy Braverman. Infantile Refsum disease. Orphanet. December 2012; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=772. Accessed 5/20/2015.
  2. NINDS Infantile Refsum Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 27, 2011; http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm. Accessed 5/20/2015.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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