Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy

Fontinha, Clara; Engvall, Monica; Sjögreen, Lotta; Kiliaridis, Stavros

doi:10.1093/ejo/cjx104

Cited by 12 publications

(8 citation statements)

References 19 publications

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“…12 In the study of Fontinha et al, it was represented that DM1 patients exhibited a retrognathic profile and a high prevalence of malocclusions. 17 The other findings of the present study were high prevalence of flat-shaped mandibular condyle (48.5%), high frequency of flattening (37.9%) among patients with DM1, and a statistically significant difference between DM1 and healthy controls according to the prevalence of osseous changes observed in the condyle. No significant difference was detected between gender and mandibular condyle morphology/ osseous changes observed in the condyle in both groups.…”

Section: Ta B L Esupporting

confidence: 61%

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The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis

Evlıce

Yüksel

Evlice

et al. 2023

J of Oral Rehabilitation

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BackgroundMyotonic dystrophy type 1 (DM1) is a neuromuscular multisystem disease. Early involvement of facial muscles may produce an extra load on the temporomandibular joint (TMJ) in DM1.ObjectivesThis study aimed to investigate the morphological analyses of the bone components of temporomandibular joint (TMJ), and dentofacial morphology in myotonic dystrophy type 1 (DM1) patients by cone‐beam computed tomography (CBCT).MethodsSixty‐six individuals (33 DM1, and 33 healthy subjects) age ranging from 20 to 69 were included in the study. Clinical examinations of the patients' TMJ regions and evaluation of dentofacial morphology (maxillary deficiency, open‐bite, deep palate and cross‐bite) were performed. Dental occlusion was determined based on Angle's classification. CBCT images were evaluated regarding mandibular condyle morphology (convex, angled, flat and round) and osseous changes observed in the condyle (normal, osteophyte, erosion, flattening, sclerosis). DM1‐specific morphological and bony TMJ alterations were determined.ResultsDM1 patients showed a high prevalence of morphological and osseous TMJ changes, and statistically significant skeletal alterations. The analysis of CBCT scans indicated the prevalent condylar shape among patients with DM1 was flat, the main osseous abnormality was flattening, there was a tendency towards skeletal Class II and a posterior cross‐bite was frequently detected in DM1 patients. There was no statistically significant difference between the genders on the parameters evaluated in both groups.ConclusionAdult patients with DM1 presented a high frequency of crossbite, tendency to skeletal Class II and morphological osseous alterations of TMJ. The analysis of the morphological condylar alterations in patients with DM1 may be beneficial in the diagnosis of TMJ disorders. This study reveals DM1‐specific morphological and osseous TMJ alterations to provide an appropriate orthodontic/orthognathic treatment planning to patients.

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Section: Ta B L Esupporting

confidence: 61%

“…Papaefthymiou et al specified that the increased prevalence of Class II malocclusion in patients with DM1 is quite possibly linked to the mandibular posterior rotation 12 . In the study of Fontinha et al, it was represented that DM1 patients exhibited a retrognathic profile and a high prevalence of malocclusions 17 …”

Section: Discussionmentioning

confidence: 99%

The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis

Evlıce

Yüksel

Evlice

et al. 2023

J of Oral Rehabilitation

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“…The craniofacial morphology of patients with DM1 is characterised by a retrognathic profile, large gonial angle, and a steep mandibular plane with a long lowerfacial height [10]. Young patients with congenital or childhood onset DM1 display an altered craniofacial morphology already at an early stage, which does not seem to improve during growth [11]. Malocclusions are common in both children and adults and previous studies have reported cases of class II occlusion, class III occlusion, anterior open bite and lateral cross-bite [10,11].…”

Section: Introductionmentioning

confidence: 99%

“…Young patients with congenital or childhood onset DM1 display an altered craniofacial morphology already at an early stage, which does not seem to improve during growth [11]. Malocclusions are common in both children and adults and previous studies have reported cases of class II occlusion, class III occlusion, anterior open bite and lateral cross-bite [10,11]. One theory that has been proposed to explain this appearance is that an open mouth posture with the mandible and tongue in a lowered position allows over-eruption of the posterior teeth, as well as stretching of the facial muscles, creating an imbalance between the intra-oral and extra-oral pressures [10].…”

Section: Introductionmentioning

confidence: 99%

Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy

Havner,

Roussakis,

Sjögreen

et al. 2023

JND

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Open bite (OB) is a common malocclusion in individuals with orofacial dysfunction and syndromes, especially in neuromuscular diseases. Objectives: The objectives were to explore the prevalence of OB in myotonic dystrophy type 1 (DM1) and Duchenne muscular dystrophy (DMD) and to create and compare orofacial dysfunction profiles. Methods: In this database study, 143 individuals with DM1 and 99 with DMD were included. The Mun-H-Center questionnaire and observation chart were used together with the Nordic Orofacial Test –Screening (NOT-S) to create orofacial dysfunction profiles. OB was categorised as: lateral (LOB); anterior (AOB); severe anterior (AOBS); or both types of anterior OB (AOBTot). Descriptive and multivariate statistics were used to compare the OB prevalence and to study associations with orofacial variables, respectively. Results: There was a statistically significant difference in OB prevalence between the DM1 (37%) and DMD (49%) groups (p = 0.048). LOB was seen in < 1% of DM1 and 18% of DMD. LOB was associated with macroglossia and closed mouth posture, AOB with hypotonic lips, and open mouth posture and AOBS with hypotonic jaw muscles. The orofacial dysfunction profiles showed similar patterns, although the mean NOT-S total scores for DM1 and DMD were 4.2±2.8 (median 4.0, min-max 1–8) and 2.3±2.0 (median 2.0, min-max 0–8), respectively. Limitations: The two groups were not age- or gender-matched. Conclusion: OB malocclusion is common in patients with DM1 and DMD and is associated with different types of orofacial dysfunction. This study highlights the need for multi-disciplinary assessments to support tailored treatment strategies that improve or sustain orofacial functions.

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“…Common features of muscular disorders are the increased vertical dimension of the face, expressed in the maxillofacial complex by compensatory overeruption of the posterior teeth and subsequent severe anterior and lateral open bite. Additionally, deviations in the transverse dimension of the maxilla are frequently present [ 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

et al. 2022

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Background: Facioscapulohumeral muscular dystrophy is the third most commonly found type of muscular dystrophy. The aim of this study was to correlate the D4Z4 repeat array fragment size to the orofacial muscle weakening exhibited in a group of patients with a genetically supported diagnosis of FSHD. Methods: Molecular genetic analysis was performed for 52 patients (27 female and 25 male) from a group that consisted of 36 patients with autosomal dominant pedigrees and 16 patients with either sporadic or unknown family status. The patients were tested with the southern blotting technique, using EcoRI/Avrll double digestion, and fragments were detected by a p13E-11 telomeric probe. Spearman’s correlation was used to compare the fragment size with the degree of muscle weakening found in the forehead, periocular and perioral muscles. Results: A positive non-significant correlation between the DNA fragment size and severity of muscle weakness was found for the forehead (r = 0.27; p = 0187), the periocular (r = 0.24; p = 0.232) and the left and right perioral (r = 0.29; p = 0.122), (r = 0.32; p = 0.085) muscles. Conclusions: Although FSHD patients exhibited a decrease in muscular activity related to the forehead, perioral, and periocular muscles the genotype–phenotype associations confirmed a weak to moderate non-significant correlation between repeat size and the severity of muscle weakness. Orofacial muscle weakening and its association with a D4Z4 contraction alone may not have the significance to serve as a prognostic biomarker, due to the weak to moderate association. Further studies with larger sample sizes are needed to determine the degree of genetic involvement in the facial growth in FSHD patients.

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Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy

Cited by 12 publications

References 19 publications

The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis

The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis

Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

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