Idiopathic Small Fiber Neuropathy Overview

  • Polyneuropathy refers to a generalized, relatively homogeneous process affecting many peripheral nerves, with the distal nerves usually affected most prominently.
  • Polyneuropathy is typically characterized by symmetric distal sensory loss, burning sensations, or weakness.
  • No specific cause is identified in up to 46 percent of patients with polyneuropathy.

Symptoms and Background

Most such cases present in adults ≥50 years of age and progress slowly over months to years. The symptoms are typically sensory, involving paresthesia, numbness, or pain. Electrodiagnostic studies show a primarily axonal polyneuropathy. Proposed but unproven causes include impaired glucose tolerance, hypertension, dyslipidemia, and increased oxidative stress.

Treatment

Gabapentin and tricyclic antidepressants may help.  Other medications have also been tried.  Continued unmet medical need.

Prevalence

Estimated between 20,000 – 80,000 patients in the US1

1 Source: www.uptodate.com/contents/overview-of-polyneuropathy/print

Erythromelalgia Overview

 

  • Neurovascular condition affecting the feet, hands, face, or other parts of the body triggered by warmth, physical activity or stress
  • Intolerance to exercise, warm baths/showers and clothing
  • In severe cases, the disease may lead to depression, anxiety and suicidal tendencies

Symptoms and Background

Erythema (heat), Pain (Usually severe burning pain but may include pins and needles or itching), Swelling, Change in perspiration and discoloration

Types of EM

Primary EM (Inherited or Sporadic SCN9A mutations + non genetic or uncharacterized) or Secondary EM (Related to an underlying disease, toxin or drug induced)

Treatment

No known currently approved treatments and off-label treatments often ineffective

Prevalence

Estimated between 4,000 – 50,000 EM patients in the US with patents covering approximately 2.2 billion people worldwide