Duchenne Muscular Dystrophy and its Effects on the Oral Cavity

Megan Devereaux
Dental Hygiene III
July 3, 2018
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Muscular dystrophy is a neuromuscular genetic disease characterized by muscle wasting

that progresses over time. The disease is present at birth, but the symptoms become apparent

over time. At first, the legs are visibly affected, then it becomes noticeable in the arms and

eventually causes weakness in the heart and lungs which causes death. There are many

different genes associated with this disease, thus there are many different kinds of muscular

dystrophy. Duchenne muscular dystrophy (DMD) is the most common form, and this form is

caused by a mutation in the DMD gene. In the 1860s, neurologist Guillaume Benjamin Amand

Duchenne was able to diagnose patient with this disease, but it was not until 1986 when Louis

M. Kunkel discovered that a mutation in the DMD gene on the X chromosome is what causes

this particular disease. The DMD gene encodes for a protein called dystrophin. Without

dystrophin, muscle fibers are much more fragile, and are unable to repair their membrane like a

healthy fiber should. This gene mutation is considered x-linked recessive, thus can be passed

down from a mother carrier to her son. This rate of transmission is seen in about two thirds of

cases, and explains why Duchenne muscular dystrophy is more common in men than in women.

However, about one third of cases are caused by gene mutation during fetal development,

which makes it possible for women to have this disease. There is no ethnic predisposition.

Parents can usually begin to tell that something is going on with their child’s health

when they start missing milestones like sitting, standing, or rolling over. At ages 3-4, patients

with DMD have noticeable muscle weakness and may have problems running or walking, and

may have increased clumsiness. In some cases, DMD may also affect a patient’s speech and

mental capacity for learning. The average age of diagnosis is about 5 years of age. Most patients

are wheelchair bound by the age of 13. Historically, patients with DMD have not lived past late
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20s, but with advanced technology in cardiac and pulmonary care, patients are living longer,

sometimes into their 30s and 40s.

As I stated before, patients with DMD lack the protein Dystrophin. Dystophin helps with

muscle repair and helps keep the integrity of the muscle fiber. Without this protein, muscle

fibers cannot heal the way they are supposed to. For example, when a healthy person runs, lifts

weights, or even does normal day activities, our muscle fibers are “damaged”. But since they

are healthy, their muscles repair themselves and help make the fibers stronger. For a patient

with DMD, their muscles do not repair themselves, which leaves them weaker than they were

before. This is what causes the progressive muscle weakness. This muscle weakness usually

starts in the legs when children are young. It affects their ability to stand and walk, and

eventually they will need to use a wheelchair. The weakness progresses to their arms, the

muscles that help them swallow, and to their heart and lungs. This is an irreversible, lifelong

disease that is ultimately fatal.

There is no cure for DMD, but the advancements in treatment have been helping

patients live longer. There are many experimental studies being conducted, but no

breakthrough treatment has been FDA approved. Many of the medications being produced are

far too expensive to be considered for most patients. There are some temporary solutions to

the ongoing problems. Examples include steroid treatment using Prednisone, Deflazacort and

Oxandrolone. Prednisone has been shown to allow patients the ability to walk later in life, but it

comes with consequences such as delayed growth, weight gain and hypertension. Deflazacort

and Oxandrolone are drugs similar to Prednisone, but are not as widely used since they have

just recently been approved by the FDA. Ventilators can be used during the day and at night for
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patients who have trouble breathing. In rare cases, patients with cardiomyopathy may receive a

heart transplant. Physical therapy can help patients stay active and healthy, but overexertion

can make the progressive muscle wasting worse. Patients may take other medications to help

with their symptoms, including antibiotics to treat respiratory infections, immunosuppressants

given after a heart transplant and to prolong muscle health, and anticonvulsants to prevent

seizures. These help treat symptoms, but are not a cure for this devastating disease.

Patients with DMD also face challenges when it comes to their oral health. Patients with

DMD are more likely to have malocclusion, caused by muscle wasting of the facial muscles. This

most often results in a cross bite or an open bite. Low muscle function affects the tongue’s

ability to self-clean, and can lead to high plaque and calculus accumulation and therefore

gingival inflammation. These patients often breathe through their mouth, and may have

macroglossia. In some cases, delayed eruption of permanent teeth has been seen, especially

the second premolars. Maxillary and mandibular arches may be wider than in healthy patients.

The medications that patients may be taking for their symptoms also have an effect on the oral

cavity. The use of anticonvulsants can cause gingival hyperplasia over time as well as

xerostomia. Tetracycline, an antibiotic, can cause damage to the enamel and leave the teeth

with permanent staining. Excess antibiotic use can lead to fungal infections.

Immunosuppressants have many oral effects that include gingival hyperplasia, gingivitis,

xerostomia, increased bleeding, and foul taste and odor. Additionally, immunosuppressants can

increase the likelihood of opportunistic infections.

Depending on the severity of the disease, a caretaker may be needed to help a patient

complete their daily oral hygiene home care. The excessive plaque and calculus accumulation
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make it very important that the home care is being held to a high standard. Even if patients are

able to grip a toothbrush with a gripping aid, holding it up to their mouth for an extended

period of time can be exhausting. Having their caretaker brush their teeth may be the best

option. Oral irrigators may be a helpful tool to help clean excess plaque after brushing and

flossing. A floss aid may help the caretaker floss in the posterior.

During dental hygiene appointments, it might be beneficial to have an assistant’s help. It

can be difficult to work when a patient has macroglossia, and an assistant could help keep the

tongue out of harm’s way. The patient may be in a wheelchair, so it might be necessary to stand

for the duration of the appointment. It may be difficult for the patient to open their mouth for

an extended period of time so it may be beneficial to use a bite block. It is suggested that these

patients be on a more regular recall, possibly every three months. This is because of the heavy

plaque and calculus build up that they may have.

In conclusion, patients with Duchenne muscular dystrophy are subject to progressive

muscle wasting that affects all aspects of their life, including their oral health routine. It is

important to have a good understanding of the disease in order to be prepared to give patients

what they need when they come to the dental office to get their teeth cleaned.
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References

Moore, Tracye A. (2016). Caring for patients with special needs. Dimensions of Dental Hygiene,

14(03): 58-61.

Symons, A.L., Townsend, G.C., Hughes, T.E. (2002). Dental characteristics of patients with

Duchenne muscular dystrophy. National Center for Biotechnology Information, 69(3):

277-283, 234.

Wilkins, E. M., Wyche, C.J., & Boyd, L. D. (2017). Clinical practice of the dental hygienist.

Philadephia: Wolters Kluwer.