There are a few things that are common to most of these variations that makes a doctor suspect HNPP:
1.) Everyone has times when an arm or leg "goes to sleep". That's normal. The most common symptom of HNPP is an arm or leg going to sleep also. But in HNPP it tends to lasts longer, sometimes much longer (normal is up to about a minute) and in some cases much more frequently. In individuals with very few symptoms the difference between normal and HNPP can be quite subtle.
2.) Absent or diminished ankle reflexes
3.) EMGs show slowing at the common entrapment sites of wrists elbow and knees. The EMG slowing at the wrist indicates Carpal Tunnel Syndrome which affects as many as 90% of people with HNPP
4.) Nerve biopsies, if done, show sausage-like swellings of myelin sheaths called tomacula'. Tomaculous Neuropathy is usually ( but not 100%) associated with HNPP.
HNPP Should Be Considered in the Following:
Lupski, James R., Charcot-Marie-Tooth Diesease: A Gene-Dosage Effect, Hospital Practice, May, 1997
Home / What is HNPP? / Other names for HNPP / Varieties of HNPP / HNPP Symptoms / The Genetics of HNPP / Number of People affected / Getting Diagnosed / The Genetic Test / Progression / HNPP Articles and Other Links of Interest / Other Organizations supporting HNPP / Q and A/FAQs / Prevention is key / Conservative management of HNPP / Toxic drug List / Surgery and HNPP / Letter to Surgical Team / Helpful hints by and for people with HNPP / People Say this works for them / Join HNPP e-mail support group / Life with HNPP / Survey of individuals with HNPP / Personal Stories / Significant HNPP Symptoms / Pain / Learning to Pace Activity / Adapting the house, etc / Equipment fundiing / Doctors who treat HNPP / HNPP Researchers / HNPP Experts / Research Studies / Disability and ADA / People First language / Tax Deductions / Glossary / Contact Maureen