As per my talks with various doctors in the USA and India, I want to share following

three things of which every Agarwal person should be aware of.

1. NBIA/PKAN disorder in Agarwal Kids: It is an ultra-rare autosomal recessive disorder
and it is known to be prevalent in Agarwal Community as a founder issue because of
marriages within the community.
The following link explains the disorder, its characteristics and its existence in Agarwal
Community.
http://www.scribd.com/doc/95164360/PANK2-Agarwal
Prevalence data regarding this disorder remains incomplete, however it is estimated that anywhere
between 1 in 1,000,000 to 3 in 1,000,000 individuals will be afflicted with this disorder (based upon
observed cases in a population), but once again this is only an estimate as the disease is so rare it is
difficult to statistically and accurately ascertain. There is much higher incidence in certain communities
such as Gabrial community in Haiti and some specific communities in Central Europe.
2. MLD (Metachromatic Leukodystrophy): This is another rare autosomal recessive
disorder but not as rare as NBIA/PKAN. In a study at Children's hospital, 33 Agarwal
children were identified who were affected with this disorder because of same gene
mutation in homozygous state suggesting a founder issue.
Dr BS Singhal, who himself is an Agarwal, has done lot of research for this disorder in
children at Bombay Hospital. Following link by him explains the disorder and
its characteristics.
http://www.neurology.org/content/62/6/878.abstract
The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40,000 to 1
in 160,000 individuals worldwide. There is a much higher incidence in certain genetically
isolated populations, such as 1 in 75 in Habbanites (a small group of Jews who
immigrated to Israel from southern Arabia), 1 in 2,500 in the western portion of the
Navajo Nation, and 1 in 8,000 among Arab groups in Israel.
LGMD, Also known as calpainopathy) : LGMD2A is an
autosomal recessive form of muscular dystrophy primarily affecting the proximal
muscles, resulting in difficulty walking. The age at onset varies, but most patients show
onset in childhood, and the disorder is progressive. Other features may include scapular
winging, calf pseudo hypertrophy, and contractures.
Following link at NIH site explains its presence in Agarwal community.
3. Limb-girdle muscular dystrophies (

http://www.ncbi.nlm.nih.gov/pubmed/23666804
4. Spinocerebellar Ataxia Type 12 (SCA12): It is an autosomal dominant disorder
which strikes in Mid 40s and presents Parkinson like characteristics. If one of the
parents is affected with this, there is 50% chance of passing it to offspring, the
symptoms may vary from person to person depending upon the CAG repeat inherited
for particular gene responsible.

Following link explains the disorder, its characteristics and its prevalence in Agarwal
community as dominant disorder. Search for Agrawal within this article for community
reference.
http://www.apiindia.org/pdf/medicine_update_2005/chapter_123.pdf
I am sharing all this to spread the awareness within the community and probably
helping the families running around for diagnosis.
The genetic testing for all three disorders is available in India at Sir Ganga Ram
Hospital, New Delhi for carriers as well as affected individuals.