(See also Overview of Prion Diseases Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more .)
In 2013, researchers identified this prion disease Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more in a British family. A similar disease has been reported in an Italian family.
Prion disease associated with diarrhea and autonomic neuropathy differs from other prion diseases as follows:
It is caused by a different mutation in the prion gene.
The prions accumulate in nerves all over the body, including those that regulate body processes such as blood pressure (autonomic nervous system Overview of the Autonomic Nervous System The autonomic nervous system regulates certain body processes, such as blood pressure and the rate of breathing. This system works automatically (autonomously), without a person’s conscious... read more ). In other prion diseases, prions accumulate only or mainly in the brain.
It causes very different symptoms, such as diarrhea.
It progresses slowly.
Symptoms begin when people are in their 30s. People have persistent watery diarrhea and bloating. They may lose weight. Because the nerves that control body processes are affected, people may not be able to pass urine (called urinary retention Urinary Retention Urinary retention is inability to urinate or incomplete emptying of the bladder. People who have incomplete emptying of the bladder may have urinary frequency or urinary incontinence. If the... read more ) or may lose control of their bladder (urinary incontinence Urinary Incontinence in Adults Urinary incontinence is involuntary loss of urine. Incontinence can occur in both men and women at any age, but it is more common among women and older people, affecting about 30% of older women... read more ). Their blood pressure may drop when they stand up, causing them to feel dizzy or light-headed (called orthostatic hypotension Dizziness or Light-Headedness When Standing Up In some people, particularly older people, blood pressure drops excessively when they sit or stand up (a condition called orthostatic or postural hypotension). Symptoms of faintness, light-headedness... read more ). People may lose sensation in their feet. Later, when people are in their 40s or 50s, mental function deteriorates, and seizures may occur.
The disease progresses over decades. People may live up to 30 years after symptoms develop.
There is no cure at present. Treatment focuses on relieving symptoms.