1. PharmaSages_Top 10 Rare Diseases*
1: Progressive Multifocal Leukoencephalopathy (PML)_Caused by a virus called JC virus
(JCV). Destroys myelin protection of nerves in the brain and spinal cord.
2: Paraneoplastic Neurologic Syndromes (PNS)_ An autoimmune condition that affects the
nervous system (brain, spinal cord, nerves and/or muscles) in patients with cancer.
3: Dercum's Disease_Fatty tissue (lipomas) growth on the trunk, the upper arms and upper legs just
below the skin. Severe pain caused by these growths pressing on nearby nerves. Exact cause not known.
4: Familial Idiopathic Basal Ganglia Calcifications (Fahr's Disease)_Abnormal calcium
deposits (calcifications) and associated cell loss in certain areas of the brain (e.g., basal ganglia) causing
dementia, paralysis and visual impairment. Exact cause not known (ECNK).
5: Neuromyelitis Optica (Devic's disease)_Chronic disorder characterized by inflammation of
the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). Symptoms similar to MS.
6: Tardive Dyskinesia_Involuntary neurological movement disorder caused by dopamine receptor
blocking drugs used to treat certain psychiatric or gastrointestinal conditions. ECNK.
7: Landau Kleffner Syndrome_Loss of comprehension and expression of verbal language
(aphasia) with severely abnormal electroencephalic (EEG) findings that often result in seizures. ECNK.
8: Alpha-1-Antitrypsin Deficiency (A1AD)_A hereditary deficiency of Alpha-1 Antitrypsin
results in unbalanced and rapid breakdown of proteins in the supporting elastic structures of the lungs
leading to emphysema and is accelerated by smoking and some occupational exposures.
9: Cyclic Vomiting Syndrome (CVS)_Characterized by recurrent episodes of severe nausea and
vomiting. Affects children more often than adults. Exact cause not known.
10: Spinal Muscular Atrophy (SMA)_Inherited disorders characterized by a loss of motor
neurons causing progressive muscle weakness and muscle wasting (atrophy) in muscles closest to the
trunk of the body (proximal muscles) such as the shoulders, hips and back. Mutations in SMN1, SMA2 and
VAPB genes associated with SMA.
* Source: http://health.howstuffworks.com/diseases-conditions/rare/10-rare-diseases8.htm

2. Contact us
Ajay Shrivastava, CEO
PharmaSages
58 Magnolia Lane
Princeton, NJ 08540
Phone: (609)423-7602
E-mail:asbiopro@pharmasages.com
Web: www.pharmasages.com