(Type II hereditary kinetic sensory neuropathy or Hypertrophic Interstitial Neuropathy or Neuritis or Charcot-Marie-Tooth Disease type 3)
It is a hereditary neurological disease that is inherited autosomally either in a recessive or dominant pattern and progressively influences motion. Its development varies and is often accompanied by pain, weakness, numbness and burning sensation in the legs.
They usually start suddenly between the ages of 10-30 years (the appearance at the neonatal age is not excluded). The first symptom that is observed is Tingling, prickling or burning sensation, the weakness first emergs in the back of the foot, which gradually spreads to the front. In addition, pain, absence of reflexes, inability to feel the temperature and foot atrophy are reported. There may be difficulty in walking, weakness of hands and arms and vision problems.
It is mainly symptomatic and supportive. Considerable importance is given to foot bracing and vision, surgical interventions and genetic counseling for future pregnancies.
For follow-up clinical trials on the disease visit: https://clinicaltrials.gov/ct2/home
NORD (National Organization for Rare Disorders), rare diseases, Dejerine Sottas Disease, https://rarediseases.org/rare-diseases/dejerine-sottas-disease/
Muscular Dystrophy Association