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Fatty acid hydroxylase-associated neurodegeneration



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

Orpha Number: 329308

Definition
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2016

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
Falls 0002527
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
0001268
Progressive gait ataxia 0007240
Progressive spastic paraplegia 0007020
30%-79% of people have these symptoms
Anarthria
Loss of articulate speech
0002425
Atrophy of the spinal cord
Degeneration of the spinal cord
0006827
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebellar vermis atrophy 0006855
Color vision test abnormality 0030584
Dysarthria
Difficulty articulating speech
0001260
Generalized dystonia 0007325
Horizontal nystagmus 0000666
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Loss of ability to walk 0006957
Motor aphasia
Loss of expressive speech
0002427
Optic atrophy 0000648
Progressive extrapyramidal movement disorder 0007153
Progressive spastic paraparesis 0007199
Progressive spastic quadriplegia 0002478
Slow decrease in visual acuity
Slow decrease in sharpness of vision
0007924
Supranuclear gaze palsy 0000605
Visual field defect
Partial loss of field of vision
0001123
5%-29% of people have these symptoms
Ankle clonus
Abnormal rhythmic movements of ankle
0011448
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Focal seizures, afebril 0040168
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Urinary incontinence
Loss of bladder control
0000020
1%-4% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Bipolar affective disorder
Bipolar disorder
0007302
Depressivity
Depression
0000716
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Peripheral neuropathy 0009830
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter 0002518
Atrophy/Degeneration affecting the brainstem 0007366
Autosomal recessive inheritance 0000007
Babinski sign 0003487
Difficulty walking
Difficulty in walking
0002355
Dysmetria
Lack of coordination of movement
0001310
Dysmyelinating leukodystrophy 0006978
Dystonia 0001332
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Lower limb spasticity 0002061
Neurodegeneration
Ongoing loss of nerve cells
0002180
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Progressive
Worsens with time
0003676
Seizure 0001250
Spastic paraparesis 0002313
Spastic paraplegia 0001258
Spastic tetraparesis 0001285
Urinary urgency
Overactive bladder
0000012
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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


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 Fatty acid hydroxylase-associated neurodegeneration. 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 Fatty acid hydroxylase-associated neurodegeneration. Click on the link to view a sample search on this topic.

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