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Disease Profile

Fatty acid hydroxylase-associated neurodegeneration

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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

G23.0

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

FAHN; Spastic paraplegia 35, autosomal recessive; SPG35

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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.

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
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-onset seizure
Seizure affecting one half of brain
0007359
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

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 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.