Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study

Mazzoli, Marco; Ariatti, Alessandra; Garuti, Giancarlo; Agnoletto, Virginia; Fantini, Riccardo; Marchioni, Alessandro; Galassi, Giuliana

doi:10.1007/s13760-020-01425-z

Cited by 6 publications

(11 citation statements)

References 40 publications

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“…Our study confirms the hypothesis of van der Plas et al [ 13 ] which suggests that this symptom precedes further muscular impairment and could be a useful predictor of muscular onset in premanifest DM1. Similarly, an effect of the genetic defect on muscular deterioration has been previously reported by Mazzoli et al [ 36 ].…”

Section: Discussionsupporting

confidence: 69%

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

Garmendia

Labayru

Zulaica

et al. 2022

Euro J of Neurology

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Background and purpose: Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases. Nevertheless, subtle signs and/or symptoms related to other systems, such as the central nervous system (CNS), may emerge and progress gradually. This study aimed to validate the premanifest DM1 concept and to characterize and track affected individuals from a CNS centred perspective.Methods: Retrospective data of 120 participants (23 premanifest DM1, 25 manifest DM1 and 72 healthy controls) were analysed transversally and longitudinally (over 11.17 years).Compiled data included clinical, neuropsychological and neuroradiological (brain volume and white matter lesion, WML) measures taken at two time points.Results: Manifest DM1 showed significantly more molecular affectation, worse performance on neuropsychological domains, lower grey and white matter volumes and a different pattern of WMLs than premanifest DM1. The latter was slightly different from healthy controls regarding brain volume and WMLs. Additionally, daytime sleepiness and molecular expansion size explained 50% of the variance of the muscular deterioration at follow-up in premanifest individuals.Conclusions: Premanifest DM1 individuals showed subtle neuroradiological alterations, which suggests CNS involvement early in the disease. Based on follow-up data, a debate emerges around the existence of a 'non-muscular DM1' subtype and/or a premanifest phase, as a precursory stage to other DM1 manifestations.

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Section: Discussionsupporting

confidence: 69%

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

Garmendia

Labayru

Zulaica

et al. 2022

Euro J of Neurology

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“…Interestingly, the patient in this study presented with dyspnea, sleep apnea, and cyanosis when she lied down. According to previous authors, physical examination mainly manifests as motor and percussive muscle rigidity[ 1 , 3 ]. The muscle atrophy of DM1 usually presents as a characteristic distribution, first involving the head, trunk, and distal muscles of the extremities.…”

Section: Discussionmentioning

confidence: 99%

“…Respiratory system symptoms are common in DM1, and respiratory failure is one of the main causes of death[ 1 , 7 ]. One study reported that adult patients with respiratory symptoms accounted for approximately 31% of the total number of patients[ 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease characterized by muscle rigidity, muscle weakness, and atrophy[ 1 - 3 ], with a prevalence of 0.5-18.1 per 100000 population[ 4 ]. DM1 patients may also have concurrent multiple systemic disorders, such as lens opacity[ 5 ], abnormal cardiac conduction systems[ 6 ], insulin resistance[ 7 ], gastrointestinal dysfunction[ 8 ], and cognitive dysfunction[ 9 ].…”

Section: Introductionmentioning

confidence: 99%

“…Also, sleep disturbances, including excessive daytime sleepiness, central and obstructive sleep apnea, restless legs syndrome, and rapid eye movement sleep dysregulation, are prominent in patients with DM1[ 12 , 13 ]. Overall, the clinical phenotype of DM1 patients is highly variable[ 1 , 6 , 9 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

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Myotonic dystrophy type 1 presenting with dyspnea: A case report

Jia¹,

Dong²,

Xue³

et al. 2022

WJCC

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BACKGROUND Myotonic dystrophy type 1 (DM1) is a genetic neuromuscular disease involving multiple systems, especially the cardiopulmonary system. The clinical phenotype of DM1 patients is highly variable, which limits early diagnosis and treatment. In the present study, we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation, analyzed her family's medical history, and reviewed related literature. CASE SUMMARY A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration, and sleep apnea for 3 d. Her respiratory pattern and effort were normal, but limb muscle tension was low. Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease. Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles, with decreased motor unit potential time limit and amplitude. Genetic testing for DM1 revealed that the cytosine-thymine-guanine (CTG) repeat number of the DMPK gene exceeded 50, while cytosine-CTG expansion in intron 1 of ZNF9 gene was < 30 repeats. The patient was diagnosed with DM1. CONCLUSION DM1 is a genetic neuromuscular disease involving multiple systems, and the clinical phenotype in DM1 is extremely variable. Some patients with DM1 may be presented at the respiratory department because of dyspnea, which should be cautioned by the pulmonologists. There may be no obvious or specific symptoms in the early stage of disease, and clinicians should improve their understanding of DM1 and make an early diagnosis, which will improve patients’ quality of life.

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Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1

et al. 2023

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Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study

Cited by 6 publications

References 40 publications

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

Myotonic dystrophy type 1 presenting with dyspnea: A case report

Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1

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