Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the peripheral nervous system. Patients diagnosed with CMT disease have axonal degeneration which results in muscle wasting, sensory loss and weakness. These patients have a very characteristic walking gait and shape of hands, along with other changes. Despite many common visible changes, no singular common genetic mutation for this disease or its cure has been identified. Therefore more case series for this disease needs to be identified so that future studies increase our knowledge about this disease. Here, we present a case series of 3 out of 4 siblings who have been diagnosed with CMT disease. Based on their age, these siblings show the different developmental stages of this disease. More of such case series need to be identified and reported so that we can identify the true genetic cause of this disease and develop a definitive cure for it.
Chand, Prem; Manglani, Pooja; Amin, Faiq; and Arain, Fazal Manzoor
"Three siblings with Charcot-Marie-tooth Disease with no other family history,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 13:
3, Article 8.
Available at: https://ecommons.aku.edu/pjns/vol13/iss3/8