Multiple System Atrophy

Background

• Multiple system atrophy (MSA) is a rare progressive neurodegenerative disease, of unknown cause, characterized by autonomic failure with orthostatic hypotension and movement disorders.
• The type of MSA is classified by the predominant motor deficit which is either a parkinsonian form, a cerebellar form, or a mixed form with features of both.

Evaluation

• Most patients present with autonomic dysfunction (most commonly genitourinary dysfunction including urinary retention or incontinence, or erectile dysfunction).
• A minority of patients will present with movement symptoms.
• A diagnosis of probable multiple system atrophy requires autonomic failure plus parkinsonism or cerebellar syndrome.
• A diagnosis of definite multiple system atrophy requires autopsy results confirming neuropathologic association with neurodegenerative changes in striatonigral or olivopontocerebellar structures.
• Neuroimaging studies (magnetic resonance imaging, functional imaging) may help to distinguish multiple system atrophy from idiopathic Parkinson disease.

Management

• Most therapies for multiple system atrophy (MSA) are based on expert opinion.
• Management can be complicated by the combination of orthostatic hypotension with supine hypertension in patients with MSA.
• Orthostatic hypotension can be treated with nonpharmacologic measures (such as custom-fitted elastic stockings) or with medications such as midodrine 10 mg 2-3 times daily or fludrocortisone.
• Supine hypertension may be treated with the removal of support stockings when supine or with medication adjustment.
• Physiotherapy is the first-line therapy for cerebellar ataxia.
• Management for other symptoms of MSA:
  • Erectile dysfunction can be treated with intracavernosal injection of papaverine, prostaglandin E1, or sildenafil.
  • Camptocormia (severe anterior flexion of spine) can be treated with physiotherapy.
  • Continuous positive airway pressure (CPAP) is the first-line treatment for breathing disorders associated with MSA.
  • Drooling can be treated with anticholinergic drugs or botulinum toxin injection of the salivary glands.
  • Botulinum toxin may also be used for treating dystonia or camptocormia.
  • Patients also may need treatment for constipation, neurogenic bladder, or depression.