SYMPTOMS AND MIS­DIAGNOSES?

This explanation is only intended to show the difficultness of establishing a MSA diagnosis. For additional questions, please refer to your treating physician.

Multiple system atrophy (MSA) is an adult-onset progressive neurodegenerative disorder that manifests clinically with autonomic failure, parkinsonism, and ataxia in any combination.

Currently, the second consensus criteria for an MSA diagnosis is used. However, it faces important problems such as poor diagnostic sensitivity and less than optimal specificity, especially at the early disease stages.

Below you can see a list of possible symptoms sometimes associated with a diagnosis of multiple system atrophy, which should be kept in mind by the physician. These symptoms could be a result of different disorders. Therefore, it takes an astute physician to draw out the correct diagnosis.

Secondary causes of autonomic failure

  • Diabetes mellitus
  • Uremia
  • Liver disease
  • Drug and toxin exposure (chemotherapy and radiotherapy)
  • Boreliosis, syphilis, and HIV infection
  • Amyloidosis

Paraneoplastic syndromes

  • Autoimmune autonomic ganglionopathy
  • Paraneoplastic autonomic neuropathy
  • Paraneoplastic cerebellar degeneration
  • Hashimoto’s encephalopathy
  • Anti-GAD ataxia

Autoimmune diseases

  • Sjogren’s syndrome
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Gluten ataxia
  • Behçet’s disease

Alternative etiologies of key autonomic symptoms

Orthostatic hypotension

  • Polypharmacy
  • Dopaminergic drugs, especially levodopa (intestinal > oral)
  • Antihypertensive drugs and diuretics
  • Neuroleptic drugs
  • Vasoactive drugs

Anemia

  • Hypovolemia (diarrhea, blood loss)

Syncope

  • Cardiopulmonary diseases (aortic stenosis, tachy- or bradyarrhythmia, ischemic cardiac disease, pulmonary embolism)
  • Hypoglycemia
  • Intoxication
  • Epileptic or psychogenic nonepileptic seizure

Urinary storage problems

  • Benign prostatic hypertrophy (men)
  • Pelvic floor relaxation/prolapse after multiple labors (women)
  • Urinary infections
  • Pelvic surgery

Voiding problems

  • Benign prostatic hypertrophy (men)
  • Pelvic masses
  • Pelvic surgery
  • Cauda equina syndrome

Sexual dysfunction

  • Medication side effects
  • Cardiovacular disease
  • Smoking (men)
  • Alcohol (men)
  • Menopause (women)
  • Thyroid disease
  • Psychogenic

Dysphagia

  • Upper gastrointestinal tract masses
  • Radiotherapy
  • Achalasia and Esophageal spasms

Constipation/ diarrhea

  • Lower gastrointestinal tract masses
  • Irritable bowel
  • Inflammatory bowel disease
  • Infectious diseases
  • Antibiotics/food
  • Thyroid and parathyroid disease
  • Disorders of calcium metabolism
  • Anal fissure
  • Spinal cord injury

Stridor, dysphonia, and inspiratory sighs

  • Chronic laryngeal infection and laryngeal masses
  • Chest masses causing extrinsic stenosis or affecting recurrent laryngeal nerve
  • Iatrogenic lesions of recurrent laryngeal nerve during surgery

Hypo/anhydrosis

  • Hypothyroidism
  • Primary skin diseases

Blurred vision, photophobia, and diminished nocturnal vision

  • Cataract and other primary eye disorders

Cold hands and feet

  • Peripheral artery disease

Resources for Further Information:

Dictionary of Medicine

CDC Diseases and Conditions

References

  1. Kim, Han-Joon et al. Multiple system atrophy-mimicking conditions: Diagnostic challenges. Parkinsonism & Related Disorders, Volume 22, S12 – S15
  2. Stankovic, I., et al., A critique of the second consensus criteria for multiple system atrophy. Mov Disord, 34: 975-984. doi:1002/mds.27701

Prepared By:

Dr. Oybek E. Turgunkhujaev (“Dr. Teo” ), Neurologist, Movement Disorders, Director, Complex Diagnostics, Semeynaya Clinic, Moscow, Russia