LIMITED ORTHODONTIC TREATMENT IN A FAMILY WITH

MYOTONIC DYSTROPHY TYPE II

Roxana Luic, tefania Gurjii, Dan Mri, Ana-Maria Blan, Magdalena Enache, Department of Orthodontics and Dento-facial Orthopedics, U.M.F
"C.Davila", Bucharest, Romania
Myotonic dystrophy (MD) is a multisystemic autosomal dominant disease caused by
a defect localized to the long arm of chromosome 19, with an incidence of 1 in
20,000.
MD is characterized by myotonia, progressive muscular weakness and atrophy,
mainly of the neck, facial and distal muscles of the limbs, cataract, heart conduction
defect, cardiomyopathy, mild mental deterioration and endocrine involvement.
Aims: To describe the dental and skeletal patterns and muscular features of the very
rare myotonic dystrophy type II in a family and to discuss possible therapeutic
strategies.
Subjects and method: Three females from the same family (mother and two
daughters) with type II myotonic dystrophy. Besides the medical history and genetic
tests, each subject underwent a clinical examination including impression taking,
intra- and extraoral photographs and cephalometric analysis.
We used Dolphin Imaging v11.5 to perform the Hasund analysis on all three
cephalograms.
Results: our investigations revealed alterations in the transversal and vertical
planes. Narrow maxillary arch, incompetent lips, high angle vertical pattern and
weakness of masticatory muscles were found in the examined patients. The
cephalometric examinations showed increased craniomandibular (NS/ML),
mandibular-palatal planes (ML/NL) and gonial angles and a long lower anterior
facial height (Sp-Gn).
All three patients have myopathic facies: expressionless face with sunken cheeks,
bilateral ptosis, labial incompetence and a dropping lower lip. They appeared to
have a thin, swan neck and modified head posture. Characteristic for the long
face syndrome, they have a narrow bizygomatic face width, narrow nose breadth
and narrow faces at the eye and lip levels.
The intraoral examination revealed a large tongue in abnormal position at rest and
tongue movement impairment, insufficient oral hygiene with multiple cavities and
periodontal disease.

Figure 2. Patient MS, extraoral and intraoral photographs and lateral cephalogram
MS (fig. 2), aged 14 years and 7 months, presents a narrow U- shape maxillary arch
with a deep palatal vault, canine-shaped later incisors, bilateral crossbite and canine to
canine open bite of a maximum of 7 mm. The cephalometric analysis revealed a class
III skeletal pattern with an ANB of 4.4, a SNA of 78, AoBo of - 3.5 and a high angle
facial type (ML/NL=35.2, MP-SN=47.2, N-SP/SP-Gn=68.6 [Hasund cephalometric
analysis]).
The treatment consisted of the transverse expansion of the maxilla using an
RME appliance with a Hyrax screw soldered to orthodontic bands on the
permanent first molars and premolars.The RME appliance was left in place as a
retention appliance for 6 months. Unfortunately the treatment progression is not
favourable.

Figure 3. Patient MS, extraoral and intraoral photographs and lateral cephalogram

Figure 1. Patient AS, extraoral and intraoral photographs and lateral cephalogram
AS (fig. 1), aged 10 years and 6 months, presents a narrow U- shape maxillary
arch with a deep palatal vault and an ectopic right lateral incisor, total crossbite
except the right central and left lateral incisors. As most patients with muscular
impairment, she exhibits remarkable susceptibility to caries. The cephalometric
analysis revealed a retrognathic class III skeletal pattern with an ANB of 3.1, a SNA
of 76.9, AoBo of - 1.8 and a high angle facial type (ML/NL=37.6, MP-SN=49.4, NSP/SP-Gn= 75.9 [Hasund cephalometric analysis]).
The treatment consisted of the transverse expansion of the maxilla using a RME
appliance with a Hyrax screw soldered to orthodontic bands on the permanent
first molars. The RME appliance was left in place as a retention appliance for 6
months to allow new bone formation at the maxillary median suture. A Delaire
facemask was also worn during this time. After this period, the retention
appliance was removed and orthodontic treatment with conventional fixed
appliance was initiated and is still ongoing, with visible improvement of facial
aesthetics.

VSS (fig. 3), aged 34 and 8 months, presents a narrow maxillary arch with a deep
palatal vault, anterior crossbite. She also has a high susceptibility to caries and
periodontal disease. She exhibits abrasions in both arches, more severe in the incisal
area. The cephalometric analysis revealed a retrognathic class III skeletal pattern with
an ANB of -2.2, a SNA of 77.1, AoBo of -2.5 and a high angle facial type (ML/
NL=14.9, MP-SN=25.5, N-SP/SP-Gn= 78.8 [Hasund cephalometric analysis]).
Discussions: For the MD patients, one can hypothesise that hypotrophy and
muscle deficit lead to greater susceptibility to the effects of gravitational force,
with subsequent clockwise mandibular rotation. Mandibular posterior rotation
would lead to stretching of perifacial soft tissues, molar overeruption and
positional modifications of the tongue. [3] Lowering of the mandible can, in turn,
affect the tongue position and head posture. Thus, a new situation is established
around the teeth, transversely decreasing the width of the palate and causing a
crossbite.[2] The aberrant growth pattern, specially for the patients with dystrophy
onset before skeletal development completion, affects functions such as chewing,
swallowing and speech.
Our findings are consistent with previously-reported craniofacial features of
patients affected by myotonic disorders, and they may be important diagnostic
signs of a congenital muscular disease. Similar to Kiliaridis and Katsaros [4], we
found that the most predominant malocclusions were the anterior open bite and
posterior crossbite but the tendency to class III malocclusion is in contradiction
with their findings. Even though earlier studies found a high frequency of
increased overjet at patients with MD, we did not encounter this in our subjects.
[2] Even though the orthognatic surgery is the best therapeutic alternative in their
condition, this possibility was refused because of the risk they present for
malignant hyperthermia during general anaesthesia.
Conclusion: For patients with disease onset before the facial bones have fully
developed, the alterations of the anthropometric parameters that are observed
demonstrate the crucial role of early diagnosis in improving the success rate of
orthodontic treatment alone and reducing the need for orthognatic surgery,
considering the disease associated risks.
Selected references:
1. Zanoteli E, Yamashita HK, Suzuki H, Oliveira ASB, Gabbai AA. Temporomandibular joint and masticatory muscle involvement in myotonic
dystrophy: A study by magnetic resonance imaging. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1994; 2:262-271;
2. Kiliaridis S, Mejersjo C, Thilander B. Muscle function and craniofacial morphology: a clinical study in patients with myotonic dystrophy. Eur
J Orthod 1989; II:131-138;
3.Portelli M, Matarese G, Militi A, Nucera R, Triolo G, Cordasco G. Myotonic dystrophy and craniofacial morphology: clinical and
instrumental study. Eur J Paediatr Dent 2009; 10(1): 9-22;
4.Kiliaridis S, Katsaros C. The effects of myotonic dystrophy and Duchenne muscular dystrophy on the orofacial muscles and dentofacial
morphology. Acta Odontol Scand 1998; 56:369-374;
5. Sjgreen L, Engwall M, Ekstrm A-B, Lohmander A, Kiliaridis S, Tulinius M. Orofacial dysfunction in children and adolescents with
myotonic dystrophy. Dev Med Child Neurol 2007; 49:1822.