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Disease Profile
Giant axonal neuropathy
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
G60.8
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)
GAN1; Giant axonal neuropathy 1; Neuropathy, giant axonal;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve
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 | ||
Abnormality of the Achilles tendon | 0005109 | |
Areflexia |
Absent tendon reflexes
|
0001284 |
0003429 | ||
Difficulty walking |
Difficulty in walking
|
0002355 |
Diffuse axonal swelling | 0003405 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Pili canaliculi | 0002235 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
30%-79% of people have these symptoms | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 |
Abnormal hand morphology |
Abnormal shape of hand
|
0005922 |
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
Facial palsy |
Bell's palsy
|
0010628 |
Mental-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency
[ more ] |
0001249 | |
Pes cavus |
High-arched foot
|
0001761 |
0002650 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Unsteady gait |
Unsteady walk
|
0002317 |
Woolly hair |
Kinked hair
|
0002224 |
5%-29% of people have these symptoms | ||
Abnormality of the pituitary gland | 0012503 | |
Babinski sign | 0003487 | |
Falls | 0002527 | |
Genu valgum |
Knock knees
|
0002857 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal pyramidal sign | 0007256 | |
Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ] |
0001155 |
Areflexia of lower limbs | 0002522 | |
0000007 | ||
Curly hair | 0002212 | |
Decreased number of peripheral myelinated nerve fibers | 0003380 | |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Difficulty articulating speech
|
0001260 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hyporeflexia of lower limbs | 0002600 | |
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Morphological abnormality of the pyramidal tract | 0002062 | |
Motor axonal neuropathy | 0007002 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Sensory axonal neuropathy | 0003390 | |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Spastic paraplegia | 0001258 | |
Steppage gait |
High stepping
|
0003376 |
Diagnosis
Making 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
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
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
|
---|
Differential diagnosis includes CMT-1F, -2E, -4A, -4B, -4C, -4D and -4E, the classic form of infantile neuroaxonal dystrophy, arylsulfatase A deficiency, spinal muscular atrophy, Friedreich ataxia, globoid cell leukodystrophy, n-hexane toxicity, and acrylamide toxicity.
Visit the Orphanet disease page for more information.
|
Organizations
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
-
Hannah's Hope Fund
19 Bluejay Way
Rexford, NY 12148
Telephone: 518-383-9053
E-mail: https://www.hannahshopefund.org/contact-us/
Website: https://www.hannahshopefund.org/
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org
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 Giant axonal neuropathy. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Giant axonal neuropathy. Click on the link to view a sample search on this topic.
References
- Giant axonal neuropathy. Genetics Home Reference (GHR). October 2007; https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy. Accessed 6/18/2015.
- Kuhlenbäumer G, Timmerman V, Bomont P. Giant Axonal Neuropathy. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1136/. Accessed 6/18/2015.