Rare diseases affect 1 in 10 Americans on average and 95% of them have no available treatment. Unfortunately, many people with rare diseases are frequently misdiagnosed or diagnosed too late because they do not present any symptoms to indicate they have a disease or condition. This article will discuss what makes a rare condition, what causes neuropathy to be a symptom in these cases, and the type of neuropathy often associated with each of these rare conditions.
What is considered a rare disease?
The exact reasons why some of these diseases are so rare are not readily understood. In some cases, it may be due to a lack of information on them or because they haven’t been identified yet. More research is needed to understand what truly makes a disease or condition rare.
Rare diseases are medical conditions that are diagnosed in fewer than 200,000 Americans. According to the National Organization for Rare Disorders (NORD), there are over 7,000 different types of rare diseases.
What is neuropathy?
The term neuropathy refers to various conditions in which the peripheral nerves have been damaged. There are many causes of peripheral neuropathy. One is damage sustained from autoimmune disorders. Some rare diseases and conditions can also cause neuropathy.
Rare diseases that may cause neuropathy
Some of the rare diseases and conditions that can cause neuropathy include:
- Guillain-Barré syndrome
- Complex regional pain syndrome (CRPS)
- Hereditary neuropathy with liability to pressure palsies (HNPP)
- Hereditary transthyretin amyloidosis (HATTR)
- Sjögren’s syndrome
- Chronic inflammatory demyelinating polyneuropathy (CIDP)
- Postural orthostatic tachycardia syndrome (POTS)
- Trigeminal neuralgia
- Burning mouth syndrome
- Metabolic disorders
- Ehlers-Danlos syndrome
- Multiple sclerosis (MS)
- Fabry disease
- Charcot-Marie-Tooth disorder
What causes neuropathy in rare diseases?
Neuropathy is a common symptom and may be caused by nerve inflammation and/or injury. Symptoms can occur as part of a rare disease or condition, such as those above, but may also happen separately from them.
Neuropathy in rare diseases is often caused by nerve damage due to autoimmune disorders, which is caused by the body’s immune system attacking itself.
Neuropathy in inherited and non-inherited disorders
Inherited disorders are caused by an abnormality in the genetic material which means that it is passed down from parents to children and could affect other family members. Charcot-Marie-Tooth disorder is one of the most prevalent hereditary motor and sensory neuropathies.
Non-inherited disorders are conditions that are not genetic; the abnormal characteristics aren’t passed down from parents to children. Although non-inherited disorders can develop at any time during a person’s life, they’re more likely to appear in adults.
Neuropathy in autoimmune diseases
Autoimmune diseases like rheumatoid arthritis, systemic lupus erythematosus (SLE), and Sjögren’s syndrome are characterized by abnormal immune system responses. In these cases, the immune cells mistake healthy tissue for foreign substances and begin attacking it. This results in swelling and inflammation of the affected area, which can cause pain and damage to nerves.
What type of neuropathy is involved with rare conditions?
Peripheral neuropathy may be a symptom of a few rare conditions. For instance, amyloidosis is a fatal condition that occurs when abnormal proteins called amyloids accumulate in different parts of the body. This condition can lead to peripheral neuropathy and damage to other organs and tissues such as the heart and kidneys.
Autonomic neuropathy is frequently associated with conditions that affect the immune system. Some autoimmune disorders, like lupus and scleroderma, may also cause peripheral neuropathy.
Although WinSanTor is not currently recruiting candidates for clinical trials regarding peripheral neuropathy and rare diseases, it is recruiting for other conditions. WinSanTor is a clinical-stage biotechnology company focused on the discovery and development of treatments for peripheral neuropathies. We believe in creating a solution that works and brings relief to millions that are struggling with this disease. Learn more about our company, our drug and subscribe to our newsletter.