New rare diseases identified in Iran

New rare diseases identified in Iran

TEHRAN –Five more rare diseases have been identified in the country, making the total number of rare diseases reach 456, according to the Rare Disease Foundation.

Schwachman Diamond Syndrome, Progressive Muscular Atrophy, Mowat Wilson Syndrome, Leiomyosarcoma, and Melnick Needles Syndrome have been newly identified, Mehr news agency reported.

The incidence of rare diseases is very low to the extent that maybe one or two people with a certain rare disease are present in the country. Some rare diseases such as ‘butterfly skin or EB’, ‘Spinal muscular atrophy (SMA)’, ‘Metabolic diseases’, ‘Autism’, and ‘Dystrophies’ are among the most common cases in the country.

Rare diseases are associated with a high psychological burden for the patient but they can also have a major impact on a patient’s family. In addition to the health burden on patients, few of these diseases have effective drug treatment available.

According to WHO, rare diseases are often serious, chronic, and life-threatening. The European Union (EU) definition of a rare disease affects fewer than 5 in 10,000 people. Around 80 percent of rare diseases are genetic disorders and half of them occur during childhood.

Out of a thousand population, 2 people get a rare disease, while the prevalence can be curbed by changing people’s culture, screening, identifying, preventing births, and raising awareness.

MT/MG 
 

source: tehrantimes.com