Laryngeal Findings in Duchenne Muscular Dystrophy

Fonseca, Sara; Costa, Cleinaldo de Almeida; Rêgo, Ana Paula Valeriano; Velasco, Leandro Castro; Lamounier, Pauliana; Roldão, Paula Martins Alves de Castro; Ramos, Hugo Valter Lisboa

doi:10.1016/j.jvoice.2020.08.030

Cited by 3 publications

(3 citation statements)

References 13 publications

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“…Most of the orally communicating patients in our cohort exhibited hypophonia when speaking, and occasionally relied on augmented communication technology, particularly when tracheostomized or 24‐h non‐invasively ventilated. A recent cross‐sectional study involving 15 DMD patients demonstrated no apparent affection of muscular tone and mobility of laryngeal muscles as assessed through videolaryngoscopy, which supported previous in vivo findings [21]. The data presented in Fonseca et al's [21] study contradict our own observations, and could perhaps be attributed to the relatively younger age of the patients included in the study, with only three of them being over 18 years old.…”

Section: Discussionsupporting

confidence: 86%

“…A recent cross‐sectional study involving 15 DMD patients demonstrated no apparent affection of muscular tone and mobility of laryngeal muscles as assessed through videolaryngoscopy, which supported previous in vivo findings [21]. The data presented in Fonseca et al's [21] study contradict our own observations, and could perhaps be attributed to the relatively younger age of the patients included in the study, with only three of them being over 18 years old. Consequently, it is possible that the intrinsic muscles of the larynx may experience delayed impairment, although detailed findings in this regard are still lacking.…”

Section: Discussionsupporting

confidence: 86%

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Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Gadaleta,

Urbano,

Brusa

et al. 2023

Euro J of Neurology

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Background and purposeAdvances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease.MethodsNineteen individuals aged 25–48 years (median 34 years) with a confirmed diagnosis of out‐of‐frame DMD gene mutation were selected.ResultsAll patients were mechanically ventilated (5/19 via tracheostomy), with different patterns of cardiomyopathy. Swallowing and nutritional issues were frequent (median body mass index 18.95), with six cases requiring artificial enteral feeding (median age at start 29 years), as well as bone density alterations (11/19, 58%). Only 2/19 had been on long‐term prednisone therapy. Issues requiring at‐home/hospital assistance were respiratory infections (15/19, 79%), gastroenterological symptoms (9/19, 47%, including toxic megacolon and rectal perforation after repeated enemas), metabolic acidosis (2/19, 11%) and recurrent ischaemic strokes (1/19, 5%). From a social perspective, augmented‐alternative communication devices were necessary for 7/19 (37%), with most of the patients being assisted at home and 2/19 institutionalized. Eight/19 (42%) patients experienced psychiatric symptoms (median age at presentation 16 years) and 9/19 (47%) chronic pain (median age at onset 23 years), in both cases treated with psychoactive/analgesic drugs without major adverse events. The patients' subjective perception of physical health resulted in unfavourable scores, whilst the subjective assessment of mental health unexpectedly showed more positive values compared to other chronic neurological conditions.ConclusionsThe analysis of adults living with DMD reveals several new health‐related issues, such as the management of emergencies and safety of pharmacological treatments for psychiatric symptoms, chronic pain management, as well as an increasing caregivers burden.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionsupporting

confidence: 86%

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Gadaleta,

Urbano,

Brusa

et al. 2023

Euro J of Neurology

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“…In a mouse model of Duchenne muscular dystrophy, the CT is affected while the other laryngeal muscles are spared [111][112][113]. Videolaryngoscopic examination of laryngeal muscle function in patients with Duchenne muscular dystrophy suggests that vocal fold adductors and abductors are also spared in this disease [114]. These observations show that the CT and other laryngeal muscles differ in allotype.…”

Section: Craniofacial Muscle Allotypesmentioning

confidence: 99%

Developmental, Physiological and Phylogenetic Perspectives on the Expression and Regulation of Myosin Heavy Chains in Craniofacial Muscles

Hoh

2024

IJMS

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This review deals with the developmental origins of extraocular, jaw and laryngeal muscles, the expression, regulation and functional significance of sarcomeric myosin heavy chains (MyHCs) that they express and changes in MyHC expression during phylogeny. Myogenic progenitors from the mesoderm in the prechordal plate and branchial arches specify craniofacial muscle allotypes with different repertoires for MyHC expression. To cope with very complex eye movements, extraocular muscles (EOMs) express 11 MyHCs, ranging from the superfast extraocular MyHC to the slowest, non-muscle MyHC IIB (nmMyH IIB). They have distinct global and orbital layers, singly- and multiply-innervated fibres, longitudinal MyHC variations, and palisade endings that mediate axon reflexes. Jaw-closing muscles express the high-force masticatory MyHC and cardiac or limb MyHCs depending on the appropriateness for the acquisition and mastication of food. Laryngeal muscles express extraocular and limb muscle MyHCs but shift toward expressing slower MyHCs in large animals. During postnatal development, MyHC expression of craniofacial muscles is subject to neural and hormonal modulation. The primary and secondary myotubes of developing EOMs are postulated to induce, via different retrogradely transported neurotrophins, the rich diversity of neural impulse patterns that regulate the specific MyHCs that they express. Thyroid hormone shifts MyHC 2A toward 2B in jaw muscles, laryngeal muscles and possibly extraocular muscles. This review highlights the fact that the pattern of myosin expression in mammalian craniofacial muscles is principally influenced by the complex interplay of cell lineages, neural impulse patterns, thyroid and other hormones, functional demands and body mass. In these respects, craniofacial muscles are similar to limb muscles, but they differ radically in the types of cell lineage and the nature of their functional demands.

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Developmental, Physiologic and Phylogenetic Perspectives on the Expression and Regulation of Myosin Heavy Chains in Craniofacial Muscles

Hoh

2024

Preprint

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This review deals with the developmental origins of extraocular, jaw and laryngeal muscles, the expression, regulation and functional significance of myosin heavy chains (MyHCs) they express and changes in MyHC expression during phylogeny. Myogenic progenitors from mesoderm in the prechordal plate and branchial arches specify craniofacial muscle allotypes with different repertoires for MyHC expression. To cope with very complex eye movements, extraocular muscles express 11 MyHCs, ranging from the superfast extraocular MyHC to the slowest, non-muscle MyHC IIB. They have distinct global and orbital layers, singly- and multiply-innervated fibres, longitudinal MyHC variations, and palisade endings that mediate axon reflexes. Jaw-closing muscles express the high-force masticatory MyHC, cardiac or limb MyHCs depending on the appropriateness for the acquisition and mastication of their food. Laryngeal muscles express extraocular and limb muscle MyHCs but shift towards slower MyHCs in large animals. During postnatal development, MyHC expression of craniofacial muscles is subject to neural and hormonal modulation. The primary and secondary myotubes of developing EOMs are postulated to induce, via different retrogradely transported neurotrophins, the rich diversity of neural impulse patterns that regulate the specific MyHCs they express. Thyroid hormone shifts 2A MyHC towards 2B in jaw, laryngeal muscles and possibly extraocular muscles.

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Laryngeal Findings in Duchenne Muscular Dystrophy

Cited by 3 publications

References 13 publications

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Developmental, Physiological and Phylogenetic Perspectives on the Expression and Regulation of Myosin Heavy Chains in Craniofacial Muscles

Developmental, Physiologic and Phylogenetic Perspectives on the Expression and Regulation of Myosin Heavy Chains in Craniofacial Muscles

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