Rare Nephrology News

Disease Profile

Localized hypertrophic neuropathy

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)

Onion whorl disease

Categories

Nervous System Diseases

Summary

Localized hypertrophic neuropathy is a nerve condition in which nerve cells increase in number and form bundles that look like onion bulbs. This condition affects one nerve, usually in an arm or leg. The symptoms of this condition include muscle weakness, numbness, and decreased reflexes in the affected limb. Symptoms slowly get worse over time.[1] The cause of this condition is unknown, but some researchers believe it might be a type of tumor, while others believe it might be an unusual reaction to injury.[2]

Treatment

Because this condition is rare, there are no established guidelines for the treatment of localized hypertrophic neuropathy. Treatment is determined based on each individual's symptoms and personal medical history. Treatment usually consists of having surgery to remove the abnormal part of the nerve. Some individuals do not have surgery and their symptoms are monitored over time.[1]

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

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Localized hypertrophic neuropathy. Click on the link to view a sample search on this topic.

References

  1. Simmons Z, Mahadeen ZI, Kothari MJ, Powers S, Wise S, Towfighi J. Localized hypertrophic neuropathy: magnetic resonance imaging findings and long-term follow-up. Muscle & Nerve. 1999; 22:28-36. https://www.ncbi.nlm.nih.gov/pubmed/9883854. Accessed 7/6/2012.
  2. Koszyca B, Jones N, Kneebone C, Blumbergs P. Localized hypertrophic neuropathy: a case report and review of the literature. Clinical Neuropathology. 2009; 28:54-58. https://www.ncbi.nlm.nih.gov/pubmed/19216221. Accessed 7/5/2012.

Rare Nephrology News