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From Barely Walking to Jiu-Jitsu Blue Belt: A Story of Determination
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Overview

The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in the muscle nicotinic acetylcholine receptor, but they can also be caused by mutations in presynaptic proteins, mutations in proteins associated with the synaptic basal lamina, defects in endplate development and maintenance, or defects in protein glycosylation.

Congenital myasthenic syndromes (CMS) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are usually not involved.

Major findings of the neonatal-onset subtype include: respiratory insufficiency with sudden apnea and cyanosis; feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; and facial, bulbar, and generalized weakness. Arthrogryposis multiplex congenita may also be present. Stridor in infancy may be an important clue to CMS. Later childhood-onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations.

http://www.checkorphan.org/diseases/congenital-myasthenic-syndrome

For her entire life Noelle Muratore has dealt with a number of physical ailments, including severe muscle weakness. For Noelle the weakness would become so debilitating that at times she was completely unable to walk. A couple of years ago she was diagnosed with Congenital Myasthenic Syndrome. CMS is a neuromuscular disorder where the muscles and nerves do not communicate properly. After being diagnosed with CMS Noelle began taking medications which made it possible for her to take on new challenges. While the medications are in no way a cure, they did help, and it was at this time that that she began researching Gracie Jiu-Jitsu schools. Noelle found Capital MMA and quickly developed a passion for the “gentle art”. Regular training and a supportive community made her more confident, and soon she realized she was capable of more than she once thought. After battling with CMS since early childhood, Noelle accepted a new kind of battle: Capital’s In House Brazilian Jiu-Jitsu Tournament. The In House was Noelle’s first time in life doing a physical competition. Noelle never took a sport growing up, but she still knew to listen to her coaches, train hard, game plan… and she won! On June 1st, 2019 — after nearly a year and a half of doing Jiu-Jitsu at Capital MMA — Noelle earned her blue belt. Her attitude and resilience are truly inspiring to those around her. While she continues to have both good and bad days as she struggles with CMS, nearly every day you can find her training at Capital MMA.

Shoutout to Watson Multimedia and Musa Visual Media, LLC for the amazing video!

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