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Multiple System Atrophy
Sunday, 08 August 2004
Sunday, 08 August 2004
Shy Drager Syndrome; Striatonigral Degeneration; Olivopontocerebellar Atrophy, Idiopathic Orthosta

What

Multiple System Atrophy (MSA, formerly known as Shy-Drager Syndrome) is a chronic, progressive disorder that causes problems in the way the nerves regulate basic bodily functions, known as autonomic functions. These functions can include decreased blood pressure with changes in position, problems with bowel and bladder function, sexual function, and sweating. Most patients first show symptoms of autonomic dysfunction, and then go on to develop loss of coordination and Parkinson’s disease-like symptoms. When Parkinson’s disease-like symptoms are most apparent in the patient, the condition is called MSA subtype P, whereas when loss of coordination is the most troubling symptom, it is referred to as subtype C.

Who

Multiple System Atrophy mostly affects adults and begins in the fifth to seventh decade of life. It occurs with an estimated frequency of 2 to 5 per 100,000 people in the United States. MSA affects both men and women, but seems to affect men more commonly. It appears to occur with equal frequency across racial lines. Thus far, no genetic or environmental causes have been found that may contribute to the disorder. The brains of affected people show deposits of proteins and loss of nerve cells in areas of the brain responsible for the movement and body regulation problems.

Signs and Symptoms

Symptoms of MSA can be divided into three groups. The onset of symptoms is slow, but they become worse over time.

  • Autonomic dysfunction: These symptoms relate to problems regulating the body’s automatic functions. This lack of regulation causes orthostatic or postural hypotension, which is a prolonged low blood pressure upon standing up, manifested as dizziness, lightheadedness and blurred vision upon standing up. Bladder and bowel dysfunction can result in urine retention or incontinence and constipation, respectively. Sexual function can also be affected.
  • Parkinsonism: Tremor, muscular rigidity, difficulty starting movements (hypokinesia), all of which result in decreased mobility and activity.
  • Ataxia: Poor coordination, resulting in difficulty controlling movements, standing and walking.

Possible Causes

In 1989, microscopic deposits of a protein called alpha-synuclein were found in the brains and nerve cells of patients with Shy-Drager Syndrome and a group of conditions of progressive nerve loss. This discovery led to the redefinition of this group of diseases as Multiple System Atrophy. These protein deposits are found in parts of the brain and spinal cord that are responsible for coordination of movement. In addition, loss of nerve cells is seen in several other locations including the origination of the Vagus nerve, the nerve responsible for regulating the autonomic functions. The combination of protein deposits and loss of nerves in these critical parts of the brain leads to the movement disorders, poor coordination and autonomic symptoms characteristic of MSA. Unfortunately, as the process relentlessly continues, death eventually results from the loss of control over vital functions. The cause of the aggregation of alpha-synuclein is unknown, but research is ongoing to determine the cause of this aggregation, as well how to stop it.

Diagnosis

As there are no laboratory or imaging tests that can definitively diagnose the disorder, clinical history and neurologic examination are the cornerstone of diagnosis. To improve diagnosis, a set of criteria were devised in 1998. These criteria define probable MSA when autonomic symptoms, Parkinson’s-like symptoms, and ataxia are present. To make a definitive diagnosis requires a brain biopsy, in which a piece of brain is taken during surgery and examined under the microscope. According to these criteria MSA cannot be diagnosed if a patient is younger than 30 years of age, has a family history of a similar disorder, has another identifiable cause of the movement disorder, or has any signs of another, different disorder. Testing may support the diagnosis. Orthostatic blood pressure may be assessed with the “tilt-table test”, where a patient’s blood pressure is assessed lying down and in the upright position. A persistent drop in blood pressure is abnormal. Ultrasound can be used to test the bladder’s function. Finally, MRI scans can show areas where there has been enough nerve degeneration to cause a change visible without a microscope. If these areas are consistent with areas affected by MSA, this supports the diagnosis, however if changes are not present, the diagnosis is not necessarily excluded. All of these tests may be used to support the diagnosis, but none is definitive.

Treatment

Unfortunately, there is no known cure for MSA, although there are several medications under investigation that may protect the nerves from degeneration. Treatment is targeted at alleviating symptoms in order to improve quality of life and at retaining physical function. Levodopa and bromocriptine are medications used in Parkinson’s Disease and may also be effective in MSA, although treatment response is different in different patients and tends to decrease after several years of use. These can help control symptoms of rigidity and problems with movement. Botulinum toxin, the same medication used to decrease wrinkles in cosmetic surgery, can assist in treating areas of muscle tightness. Orthostatic hypotension can be treated by keeping the head of the bed tilted up at night, using elastic stockings, increasing salt intake, and using medications such as Fludrocortisone, Ephedrine, and midodrine. Low blood pressure after eating can be treated with Octreotide injections prior to eating. Excessive urination at night can be treated with desmopressin nasal spray. Bladder symptoms may be relieved by teaching the patient to use a catheter to drain the bladder, or with the medication Oxybutinin. Finally, patients benefit from physical therapy, occupational therapy, and speech therapy to help retain those functions and delay wasting of muscles.

Prognosis

The course of the disease varies considerably. The majority of patients survive for 6-9 years from the time of diagnosis, although survival of 15 years has been described. Evidence indicates that the more severe the involvement of the autonomic nervous system, the poorer the prognosis. Physical and occupational therapy can assist in retaining quality of life as long as possible and various medications can dampen symptoms, but in time, their effect wears off. Research is ongoing into the possibility of drugs that can protect the nerve cells from degenerating.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

American Parkinson Disease Association
National website with chapters, newsletters, support information.

National Ataxia Foundation (NAF)
Website with a chat room, events, further links.

National Dysautonomia Research Foundation
Source of further information, resources, support group and bulletins.

National Institute of Neurological Disorders and Stroke
National Institute of Health website with extensive links to many sources of information

National Parkinson Foundation
Website with national information, resources, personal stories, research and links.

Shy-Drager/Multiple System Atrophy Support Group, Inc
Resource for news, support groups, doctors and clinics.

Worldwide Education & Awareness for Movement Disorders (WE MOVE)
Great website for multiple movement disorders, a pediatric page, chat room, support groups.

Google Search for Multiple System Atrophy

References and Sources

Wenning GK, Colosimo C, Geser F, Poewe W (2004). Multiple System Atrophy. The Lancet Neurology; 3. Stewart JM (2002). Orthostatic Intolerance in Pediatrics. Journal of Pediatrics; 140: 404-11. Quan D. Idiopathic Orthostatic Hypotension and Other Autonomic Failure Syndromes. Emedicine www.emedicine.com/neuro/topic609.htm. 2002.