EARLY PHYSICAL THERAPY MEF2C HAPLOID DEFICIENCY SYNDROME (5Q14.3 MICRODELETION)

Eliso Murvanidze

doi:10.31435/rsglobal_ws/30062023/8017

Eliso Murvanidze Physical therapist (Ph.D) (PT), Georgian State Teaching University of Physical Education and Sport, Tbilisi, Georgia

DOI: https://doi.org/10.31435/rsglobal_ws/30062023/8017

Keywords: MEF2C, MEF2C haploinsufficiency, mutation, gene, deletion

Abstract

MEF2C haploid deficiency syndrome is caused by a mutation of the MEF2C gene, which causes dysfunction of a protein essential for the proper functioning of the musculoskeletal, cardiovascular, neurological, craniofacial, and immune systems. A deletion mutation occurs when part of a chromosome is missing. Signs and symptoms vary widely and usually first appear when the patient is between 5 months and 2 years old. This is mainly a review and partly research article. The mentioned syndrome is still in the process of research, since the patients with this syndrome are very few worldwide, and there are 2 patients in Georgia, one of them started treatment from the age of 7 months, when a delay in the stages of development was noticed, namely physical therapy, which was carried out 5 days a week, the improvement started from the first month. This also confirms that before anomalous movements become dominant, intervention should take place and be tailored to the areas that need it at that stage; along with gross motor function, fine motor skills improved, as well as eye-hand coordination; if we evaluate the general condition, this observation led to purposeful movements of the patient. I think this article will help physical therapists and the patient's parents to focus on early intervention in terms of gross motor function, as a result of which the general condition of the patient improves.

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