Rare Pulmonology News

Disease Profile

Ataxia with oculomotor apraxia type 4

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

AOA4; Ataxia-oculomotor apraxia-4; Ataxia-oculomotor apraxia type 4

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

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
100% of people have these symptoms
Ataxia
0001251
30%-79% of people have these symptoms
Cognitive impairment
Cognitive deficits
Cognitive defects
Cognitive abnormality
Abnormality of cognition
Mental impairment
Intellectual impairment

[ more ]

0100543
Dystonia
0001332
Obesity
Having too much body fat
0001513
Oculomotor apraxia
0000657
5%-29% of people have these symptoms
Abnormal saccadic eye movements
0000570
Abnormality of toe
Abnormalities of the toes
0001780
Distal lower limb muscle weakness
0009053
Dysarthria
Difficulty articulating speech
0001260
Dyscalculia
0002442
Dyslexia
Reading disability
0010522
Kyphoscoliosis
0002751
Muscular dystrophy
0003560
Pes cavus
High-arched foot
0001761
Postural instability
Balance impairment
0002172
Progressive distal muscular atrophy
0008955
Sensorimotor neuropathy
Nerve damage causing decreased feeling and movement
0007141
Sensory impairment
0003474
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance
0000007
Cerebellar atrophy
Degeneration of cerebellum
0001272
Peripheral neuropathy
0009830
Rapidly progressive
Worsening quickly
0003678
Tetraplegia
Paralysis of all four limbs
0002445

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.

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.