Prevalence and Incidence of Refsum Disease

Refsum Disease: Rare Disease

Refsum Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Refsum Disease, or a subtype of Refsum Disease, affects less than 200,000 people in the US population.

Ophanet, who are a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Refsum Disease as a "rare disease". More information about Refsum Disease is available from Orphanet

Refsum Disease Prevalence: Book Excerpts

• Ataxia - epidemiology - Ataxia

Prevalence/Incidence of Refsum Disease: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the prevalence and/or incidence of Refsum Disease.

Ataxia: Ataxia - epidemiology
(The 5-Minute Pediatric Consult)

Ataxia - incidence

• ~1 in 1,000 children develop acute ataxia following varicella infection.
• The most common congenital cerebellar syndromes are caused by perinatal trauma and hypercoagulable or hemorrhagic vascular events (“ataxic cerebral palsy”). Fetal stroke is estimated to complicate 1 in 4,000 full-term births. The Dandy-Walker syndrome and structural cerebellar abnormalities are rarer causes of congenital cerebellar dysfunction.
• Metabolic/heredodegenerative causes are rare.
  • Friedreich ataxia incidence is 2–4 in 100,000.
  • Ataxia with oculomotor apraxia occurrence is near 5 in 100,000.

Ataxia - prevalence

Cerebellar medulloblastomas represent 20% of pediatric primary brain tumors (associated with (ataxia-telangiectasia, basal cell nevus syndrome). Cerebellar astrocytomas, fourth ventricle ependymomas, and brainstem gliomas are also more common in children than in adults.

» READ BOOK EXCERPT ONLINE »

Source: The 5-Minute Pediatric Consult, 2008

About prevalence and incidence statistics:

The term 'prevalence' of Refsum Disease usually refers to the estimated population of people who are managing Refsum Disease at any given time. The term 'incidence' of Refsum Disease refers to the annual diagnosis rate, or the number of new cases of Refsum Disease diagnosed each year. Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence. For more information see about prevalence and incidence statistics.

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