Mutations in GDAP 1 (Ganglioside induced differentiation associated protein 1)  are linked with CMT (Charcot Marie Tooth), a type of peripheral neuropathy. GDAP1 mutations are the cause of CMT disease and proved to be associated with vocal cord palsy and diaphragmatic dysfunction. Different complications have been seen linked with GDAP1 mutations in which vocal cord paralysis has been predominantly evaluated.  For this purpose, evaluations for vocal cord function as well as working of respiratory system, had been performed in three patients of the selected family, showing autosomal recessive inheritance, having this disorder of axonal CMT2. Some patients showed hoarseness of voice which is an additional symptom of CMT disease and they were unable to speak aloud. Investigations of patients had been done by pulmonary function and phrenic as wel as peripheral nerve conduction studies as well. In our study, we had identified family with clinical symptom of hoarseness for collecting clinical data of affected families, transmitting the disease. This study had  enabled  us to identify the severity of GDAP1 mutations, its prevalence and different phenotypic effects in Pakistan. It was shown by this study that patients  of CMT, having normal vocal cord as well as normal pulmonary working showed much less severe symptoms but patients of CMT who had GDAP1 mutations developed adverse clinical course and showed disability with severity, such as weak limb muscles and weak laryngeal muscles due to progression of weak  proximal limb muscles at late stages of life.

  In case of GDAP1 autosomal recessive neuropathy, patients ,showing pes cavus as well as muscular dystrophy, get chair bound and they need any surgery or braces to lead normal life, with aid of physical therapy and exercise

Mrs. Uzma Manzoor is a dedicated professional based in Sahiwal, Pakistan. She is associated with Comsats, a prominent organization in the country. With a strong educational and professional background, she brings expertise and commitment to her work.