A rare disease a day: Multiple System Atrophy

Today I am live tweeting from the NIH, for Rare Disease Day.

In honor of rare disease day this week, I am raising awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndromeGaucher diseaseTay-SachsMorquio syndromeFabry diseaseSanfilippo syndromeKrabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-ToothFibromuscular dysplasia, Huntington’s disease,  Giant Axonal Neuropathy (GAN). Neuroendocrine tumor, Amyloidosis, Lowe syndrome , Rett Syndrome, Glucose Transporter Type I Deficiency Syndrome and today is the turn of Multiple System Atrophy.

Multiple-system atrophy (MSA) is a degenerative neurological disorder. Cell degeneration causes problems with movement, balance, and other autonomic functions of the body such as bladder control or blood-pressure regulation. The cause of MSA is unknown and no specific risk factors have been identified. Around 55% of cases occur in men, with typical age of onset in the late 50s to early 60s. MSA often presents with some of the same symptoms as Parkinson’s disease but patients generally show minimal response to the dopamine medications. The overall prevalence of MSA is estimated at 4.6 cases per 100,000 .

There are no available treatments that slow or halt progression of multiple system atrophy. In a mouse model rifampicin inhibited formation of α-synuclein fibrils. A randomised, double-blind, placebo-controlled trial studied this drug. The primary outcome was rate of change (slope analysis) from baseline to 12 months in Unified Multiple System Atrophy Rating Scale (UMSARS) I score. Rifampicin does not slow or halt progression of multiple system atrophy.

Results suggest that antidepressants might be of interest as anti-inflammatory and α-syn-reducing agents for MSA and other α-synucleinopathies based on the MSA mouse model. The use of comprehensive cell-based neurorestorative therapy for patients with multiple system atrophy appears safe and beneficial. A pilot clinical trial evaluated safety and tolerability of intravenous immunoglobulin (IVIG) in MSA.


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