Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract

Karnebeek, I.; Boon, H.T.M.; Huis, Anita; Cup, Edith; Eggink, C.A.; Schouten, Meyke; Looij, H.J. van der; Engelen, B.G.M. van; Smulders, Fran H.P.; Voermans, N.C.

doi:10.1016/j.nmd.2022.09.003

Cited by 1 publication

(3 citation statements)

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“…This perspective is important as additional needs can be identified and addressed. An interview study showed that patients with DM1 were satisfied with the support concerning their physical symptoms but they wished to receive more psychological an emotional support for them and their partners [ 4 ]. We were not able to gain data from pulmonary function due to weakness of bulbar muscles and later also tracheostomy.…”

Section: Limitationsmentioning

confidence: 99%

“…The clinical phenotype is variable, generally associated with the length of the number of CTG-repeats and progresses from generation to generation [ 4 ]. Cases with severe neuromuscular respiratory failure and need for invasive ventilation can occur as well as much less severe phenotypes.…”

Section: Introductionmentioning

confidence: 99%

“…Myotonic dystrophy type 1 (DM1) is an autosomal-dominant genetic disorder due to an expansion of a cytosine-thymine-guanine (CTG) repeat in the dystrophia myotonica protein kinase gene of chromosome 19q13.3 [1]. DM1 can cause extramuscular symptoms such as diabetes cataract and hypogonadism [2][3][4]. Neuropathological studies have revealed cerebral "1) protein and nucleotide deposits; 2) changes in neurons and glia cells; and 3) white matter alterations" [5, Fig.…”

Section: Introductionmentioning

confidence: 99%

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Central Bradypnea and Ataxic Breathing in Myotonic Dystrophy Type 1 – A Clinical Case Report

Summ

Mathys

Grimm

et al. 2023

JND

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Background: The occurrence of obstructive and central sleep apnea syndromes, ventilator pump failure and reduced hypercapnic ventilatory drive in myotonic dystrophy type 1 (DM1) is well established, and there are indications for an impairment of the hypoxic ventilator drive, too. Yet, it is still unknown, to which extent the respiratory rhythm is affected by DM1, thus if a central bradypnea, cluster breathing or ataxic (“Biot's”) breathing can occur. Additionally, the causes of the impairment of the central respiratory drive in DM1 are not known. Case Presentation: We present the case of a tracheotomized female patient with DM 1 with central bradypnea and ataxic breathing. A 57-year-old woman with DM1 was admitted to our Neurointensive Care Unit (NICU) due to refractory tracheobronchial retention of secretions resulting from aspiration of saliva. Due to a combination of chronic hypercapnic respiratory failure, severe central bradypnea with a minimal breathing frequency of 3 per minute and ataxic breathing a pressure-controlled home ventilation was initiated. Conclusions: In our patient central bradypnea and ataxic breathing possibly were respiratory sequale of DM1, that may have been caused by pontine white matter lesions affecting the pontine respiratory nuclei. From a clinical viewpoint, polygraphy is a suitable tool to objectify disorders of the respiratory rhythm in DM1 even in tracheotomized patients. Clinical studies combining respiratory diagnostics as polygraphy, transcutaneous capnometry and blood gas analysis with brain magnetic resonance imaging (MRI) are required to better understand disorders of respiratory regulation in DM1, and to identify their anatomical correlates.

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Section: Limitationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%