Chances are good, if you’re reading this and you’re already in your late 20’s or early 30’s (or older) and you have
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
Dejerine-Sottas Disease (DSD)
Hereditary Motor Neuropathy (HMN)
You were probably diagnosed in your teens or possibly earlier. But if you or someone you know is in their teens (or younger) and they have a combination of the following symptoms:
Tingling or numbness
Pain in the feet and hands
Weakness and loss of muscle mass (especially in their calves or lower legs and feet)
Insensitivity to pain
Foot deformities such as hammer toes or high arches
It might be time to do some genetic testing to determine if they have a form of inherited neuropathy.
What is Hereditary Neuropathy?
Hereditary neuropathies are inherited disorders that affect the peripheral nervous system, often resulting in peripheral neuropathy, and can affect you in many different ways; but they are usually grouped into four different categories. As the names imply, they are classified based on exactly which nerves are affected and which functions are impaired.
The most common form of is Charcot-Marie-Tooth disease (a motor and sensory neuropathy) affecting 1 out of every 2500 people. Most people with CMT are diagnosed before they reach their 20’s but their symptoms can begin years earlier. CMT may take a while to diagnose because the symptoms can wax and wane over a period of years.
How Can I Find Out if I Have These?
The only way to diagnose hereditary neuropathy is through blood tests for genetic testing, nerve conduction studies and nerve biopsies. If you’ve been diagnosed without going through any of these tests, you probably don’t have a good diagnosis.
Your doctor should take a very thorough history and physical. In order to really determine if you are at risk for, you need to look as far back as three generations. However, a word to the wise, even if your condition has not shown up in your family previously, all inherited diseases have to start somewhere. You could just be the person starting it in your family. That makes genetic testing even more important.
Are These Curable?
There are no known cures as of today. Treatment is usually to treat the symptoms and give your body the support it needs to function as normally as possible. That usually means physical and occupational therapy, as well as
Care and correction for your muscular and skeletal system
Treatment for any other underlying medical problems
Nutrition education and diet planning
A step by step exercise regimen
Medication as needed or necessary