Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy

Title

Other Names:

Iwashita syndrome

Categories:

Nervous System Diseases

Summary Summary

Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. Autosomal recessive inheritance has been suggested.^[1]

Last updated: 11/26/2012

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Areflexia	Absent tendon reflexes	0001284
Autosomal recessive inheritance		0000007
Broad-based gait	Wide based walk	0002136
Distal muscle weakness	Weakness of outermost muscles	0002460
Distal sensory impairment	Decreased sensation in extremities	0002936
Distal upper limb amyotrophy		0007149
Gait ataxia	Inability to coordinate movements when walking	0002066
Joint contracture of the hand		0009473
Optic atrophy		0000648
Pectus excavatum	Funnel chest	0000767
Peripheral demyelination		0011096
Positive Romberg sign		0002403
Progressive sensorineural hearing impairment		0000408
Short thumb	Short thumbs Small thumbs [ more ]	0009778
Thoracic scoliosis		0002943
Ulnar deviation of the hand		0009487
Variable expressivity		0003828
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Last updated: 10/1/2019

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Learn More 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

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. Click on the link to view a sample search on this topic.

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References References

Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/258650. Accessed 11/26/2012.

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