Duchenne Muscular Dystrophy 1

Duchenne Muscular Dystrophy

Amy Formanek

Kirkwood Community College

Duchenne Muscular Dystrophy 2

Duchenne Muscular Dystrophy (DMD) is an X chromosome recessive

neuromuscular disease. The gene found on the arm of the X chromosome

codes for multiple proteins. Dystrophin is one of them. DMD develops from

the lack of dystrophin or broken dystrophin being made. Dystrophin is used

in the body to stabilize the plasma membrane during muscle contractions.

Without this stabilization, tears develop in the cell membranes. Calcium is

then allowed to enter the cells and disrupt homeostasis causing the cell to

fail. The construction. Of the muscles are disordered and cell replacement of

fat and connective tissues invade the muscle. Other protein codes that come

from that gene are ones that are used in the brain and spinal cord. This is

thought to be the reasoning why most commonly people affected by DMD

also develop behavioral and intellectual disabilities.

The gene is one of the largest in all of the human genome so with that

title comes a high relevance of mutations. French neurologist Guillaume-

Benjamin-Amand Duchenne published not the first, but the most extensive

report of his observations of 13 children with what have called

pseudohypertropic dystrophy in 1868. It was not until 1986 that the gene

responsible was found on the X chromosome. He concluded the disease was

carried by the mother and affected in the sons. Two thirds of DMD cases

developed by inheritance, the other third were cases of spontaneous

mutation from within the genes.

1 male newborn is affected in every 3,500 newborns. DMD is the most

prevalent type of muscular dystrophy is children. DMD affects all ethnic

Duchenne Muscular Dystrophy 3

groups, but primarily boys are affected. Some cases of girls have been

documented but too low to hold a statistic. Clinically DMD is detectable in

children between the ages of 2 and 6. They appear as normal healthy babies

at birth but parents tend to notice pretty soon they are very clumsy and may

have enlarged calf muscles. Parents tend to notice before the clinician would

due to the daily lack of developing motor functions. DMD is an unforgiving

disease that follows a progressively fatal course. At the age of 7 or 8 the

progression of the disease really takes off. Changes are very dramatic and

weakness continues to advance. By the age of 10 or 12 the child is most

likely wheelchair bound. Scoliosis is very quick to set in once they are

wheelchair bound. As the disease progresses they will need assistance for all

activities. They will lose their ability to cough increasing the risk of

pneumonia. Their joints will stiffen and become so weak eventually only their

fingers will be the only functioning mobility they have.

Currently there is no cure for DMD but treatments are available to

improve quality of life and slow down the destructive course. Some

treatments include medical, surgical, ventilations, physical therapy and

counseling. Corticosteroids are the only known medical treatment to

significantly preserve and improve the functions of muscles. Corticosteroids

are very strong steroidal medications and have many side effects

themselves. They can cause weight gain throughout the body and facial

Cushingoid otherwise known as moon face. They can also cause osteoporosis

of the bones making them brittle. The oral cavity is also affected by the
Duchenne Muscular Dystrophy 4

corticosteroids which could create oral candidiasis and xerostomia.

Prednisone has also been used and has been questioned on its effects to the

masticatory muscles. Masticatory muscles are affected by DMD but

prednisone is also suspected to have that affect.

DMD affects multiple systems requiring a broad spectrum of

treatments. Systems affected include the skeletal muscles, bone and joints,

lungs, heart and brain function. Usually the hips, pelvic area, thighs and

shoulders are affected first. Soon after comes degeneration of the

masticatory muscles. Respiratory assistance is first only needed in the

evenings then will be need constantly. By the age of 25 or 30 both the lungs

and heart are affected. Mental handicap and behavioral differences develop.

Everything will worsen with age which is why many dont live past their 30s.

Masticatory muscles are significantly compromised. Patients have such a

hard time, and long time, chewing solid food so they tend to switch to a

softer diet. This means more cariogenic foods are being exposed to their oral

cavity. The tongue becomes very weak and they then are unable to swallow

efficiently leaving a film in their throat to cause infection. Because of the

weakness in their tongue, they tend to have macroglossia and go into cross

bite. With a combination of insufficient movement of the tongue, mouth

breathing, cross bite and weakening of muscles and bone structure, they

could develop an open bite and malocclusions. The trigeminal nerve could be

affected causing painful swelling and facial palsy. The painful attacks of the

trigeminal nerve can happen from everyday routine things such as brushing
Duchenne Muscular Dystrophy 5

their teeth. This will then drive the patient away from oral hygiene and put

them at a high risk for caries and periodontal disease. These patients could

present will noticeable attrition. Muscle spastic events happen when myelin

sheaths from the nerves break and cause lesions in the brain or spinal cord.

This causes jerky uncontrollable movements that may frequently cause the

patient to grind or clench.

Family members take on different roles when someone is diagnosed

with DMD. Strong burdens of physical, emotional and financial

responsibilities fall on them. It all depends on who they are and what their

lifestyle is like whether or not the family is able to care for the loved one on

their own. Home care nurses can be a wonderful aid in coordinating the care

of the patients. Help is common and sometimes very necessary but not

required in all cases.

A powered toothbrush would be ideal for these patients because of the

larger handle and the work load that is relieved from them by the brush.

Eventually they will need assistance with brushing and flossing but even

then a power brush will greatly improve their home care. Along with the help

of the brush, floss reachers would be great in the beginning to help the

patients but eventually a waterpik could be used as a flosser.

Dental appointments can be really rough on these patients. It is best to

schedule these patients early in the morning and keep them short. They

should be on a 3 month recall to keep up with the plaque and calculus and

avoid periodontal disease. Normal patient chair positioning may not be

Duchenne Muscular Dystrophy 6

feasible for these patients. That means the clinician may have to stand in

order to go about the appointment. You may want to watch for muscle

spasms in the jaw during treatment to prevent the patient biting you. The

use of a bite block or placing your mirror on the occlusal surface to stop the

patients bite and to keep their mouth open. It is difficult for the patient to

hold open their mouth and even more difficult if trismus sets in. Sealants and

fluoride treatments are highly recommended for these patients because of

their caries risk. No anesthesia is safe for DMD patients. They could go into

malignant hyperpyrexia which is excessive body temperature.

Duchenne muscular dystrophy is a progressive disease that is common

in children. Unfortunately they do not have a good prognosis and only live to

about the age of 30 with the help of therapies and medications. Maintaining

good oral health is very important and very difficult to obtain for these

patients. They have to overcome many obstacles in everyday activities we

wouldnt think twice about.

Duchenne Muscular Dystrophy 7

References

Botteron, S., Verdebout, C. M., Jeannet, P. Y., & Kiliaridis, S. (2009). Orofacial

dysfunction in Duchenne muscular dystrophy. Archives of Oral Biology,

54, 1, 26-31

Reich, Marlaina J. & Campbell, Patricia R. (2010). The oral implications of ms.

Dimensions of Dental Hygiene, 8(1), 52-55.

Ross, J. L., & Mazzocco, M. M. (2007). Neurogenetic developmental

disorders : Variation of manifestation in childhood. Cambridge, Mass: The

MIT Press.

Van, B. H. W., Van, . E.-H. L., Steenks, M. H., Bronkhorst, E. M., Creugers, N.

H., de, G. I. J., & Kalaykova, S. I. (2014). Predictive factors for masticatory

performance in Duchenne muscular dystrophy. Neuromuscular Disorders :

Nmd, 24, 8, 684-92.