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Disease Profile
Infantile neuroaxonal dystrophy
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.
Unknown
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Seitelberger disease; INAD; Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6
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 | |||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
30%-79% of people have these symptoms | |||
Cachexia |
Wasting syndrome
|
0004326 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 | |
1%-4% of people have these symptoms | |||
Areflexia |
Absent tendon reflexes
|
0001284 | |
Decreased nerve conduction velocity | 0000762 | ||
Percent of people who have these symptoms is not available through HPO | |||
Abnormal pyramidal sign | 0007256 | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 | |
Abnormality of visual evoked potentials | 0000649 | ||
0001251 | |||
0000007 | |||
Babinski sign | 0003487 | ||
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 | |
Chorea | 0002072 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 | |
Difficulty articulating speech
|
0001260 | ||
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 | |
Dysmetria |
Lack of coordination of movement
|
0001310 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | ||
0001332 | |||
EMG: chronic denervation signs | 0003444 | ||
Emotional lability |
Emotional instability
|
0000712 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 | |
Frontal bossing | 0002007 | ||
Gait ataxia |
Inability to coordinate movements when walking
|
0002066 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 | |
Generalized muscle weakness | 0003324 | ||
Gliosis | 0002171 | ||
Global |
0001263 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hyperactivity |
More active than typical
|
0000752 | |
Hyperreflexia |
Increased reflexes
|
0001347 | |
Hypertonia | 0001276 | ||
Impaired smooth pursuit | 0007772 | ||
Impulsivity |
Impulsive
|
0100710 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Intention tremor | 0002080 | ||
Lewy bodies | 0100315 | ||
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Morphological abnormality of the pyramidal tract | 0002062 | ||
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 | |
Neurofibrillary tangles | 0002185 | ||
Neuronal loss in |
Loss of brain cells
|
0002529 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Optic atrophy | 0000648 | ||
Progressive |
Worsens with time
|
0003676 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 | |
0001250 | |||
Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 | |
Spastic tetraplegia | 0002510 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | ||
DiagnosisMaking 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
Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
References
Rare Neurology News |