User:119.17.33.196

What is Myotonic Dystrophy?
Myotonic Dystrophy is an autosomal dominant neuromuscular disorder. This means in order for a newborn to inherit it, they only need the abnormal gene from just one parent. There are two different types of Myotonic Dystrophies; pathological methods identify dystrophy type 1 by an unstable triplet cytosine thymine guanidine repeat on chromosome nineteen and dystrophy 2 by a tretranucleotide repeat of cytosine-cystosine-thymine-guanine (CCTG) on chromosome 3

Who does it affect?
Myotonic Dystrophy type 1 is most commonly diagnosed during early adulthood, however incidences have occurred where newborns who show no immediate signs of neuromuscular abnormalities are diagnosed later in childhood. Weakness in facial and neck muscles, poor suckling ability, problems with swallowing and speech are indicative of any potential cases of muscular dystrophy. Key clinical features of Myotonic Dystrophy in adults are wasting of the sternocleidomastoid and temporal muscles, decrease in finger flexor strength, weak facial muscles and ptosis. A muscular impairment rating scale has been developed to measure the progression of the severity of muscular weakness, wasting and myotonia.

Myotonic muscular dystrophy can also greatly impact the functioning of the ocular, cardiovascular, respiratory, digestive, metabolic and endocrine systems as well as the central nervous systems. Due to the restrictions in physical activity, individuals with myotonic muscular dystrophy have a higher risk of developing secondary chronic illnesses. Cardiovascular disease, diabetes and obesity are all sedentary lifestyle associated diseases that have higher incidence rates for progressive neuromuscular diseases.

Prevention
There is no immediate cure available for Myotonic Muscular Dystrophy. The identification and intervention for those with functional limitations warrants the initiation of preventative exercise programs to better the quality of life in sufferers.

Exercises used for prevention are:
 * Resistance training
 * Endurance training
 * Aerobic exercise
 * Proprioceptive Neuromuscular Facilitation
 * Inspiratory muscle training

It is recommended the prevention physical exercises be kept at moderate intensities due to the nature of the disease. The lack of protein synthesis means the muscles can be damaged and fatigued if the load is excessive.

Exercise Loads
Resistance training has been recommended to be at 60-80% of 1RM, at 8 reps of 3 sets. Benefits include; increases size and strength of muscle fibres and improves membrane permeability of serum myoglobin in the muscle cells .'

Endurance exercise training to be performed at body weight 30-40% 12 reps of 2 sets. Benefits include; maintains activation of the neuromuscular junction which often deteriorates in a sedentary lifestyle as well as functionality.

Aerobic exercises such as fast walking 25-30 mins and light running 15-20 mins can be highly beneficial. Muscles become conditioned and slight hypertrophy occurs, this will delay the onset of muscle degeneration.

Inspiratory muscle training is effectively resistance training for the lungs by blowing against a resistance. This trains the lungs so that degeneration is delayed.