Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints

Kouwenberg, Carlyn V.; Voermans, N.C.; Quinlivan, R.; Engel-Hoek, Lenie van den

doi:10.3233/jnd-180320

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…Oral function evaluation may help confirm the effectiveness of treatment, and predict future general-health deterioration [ 8 ]. It is also known that decreased oral function is a prodromal symptom of severe diseases including neuromuscular conditions [ 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 ]. It is clearly important to conduct oral function examinations on a broad range of patients, since they have the potential to incidentally detect severe diseases at an early stage.…”

Section: Discussionmentioning

confidence: 99%

Relationship between Oral Hypofunction and Sarcopenia in Community-Dwelling Older Adults: The Otassha Study

Kugimiya

Iwasaki

Ohara

et al. 2021

IJERPH

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Oral hypofunction, resulting from a combined decrease in multiple oral functions, may affect systemic-condition deterioration; however, few studies have examined the association between oral hypofunction and general health among older adults. In this cross-sectional study, we examined the relationship between oral hypofunction and sarcopenia in community-dwelling older adults. We included 878 adults (268 men and 610 women, mean age 76.5 ± 8.3 years). Tongue coating index, oral moisture, occlusal force, oral diadochokinesis (/pa/,/ta/,/ka/), tongue pressure, mas-ticatory function, and swallowing function were evaluated as indicators of oral hypofunction. Grip strength, gait speed, and skeletal muscle mass index were measured as diagnostic sarcopenia parameters. The association between oral hypofunction and sarcopenia was examined via logistic regression using sarcopenia as the dependent variable. Oral hypofunction prevalence was 50.5% overall, 40.3% in men, and 54.9% in women. The prevalence of sarcopenia was 18.6% overall, 9.7% in men, and 22.5% in women. A logistic regression showed oral hypofunction, age, body mass index, higher-level functional capacity, and serum albumin level were significantly associated with sarcopenia. Sarcopenia occurred at an increased frequency in patients diagnosed with oral hypofunction (odds ratio: 1.59, 95% confidence interval: 1.02–2.47); accordingly, oral hypofunction appears to be significantly associated with sarcopenia.

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Section: Discussionmentioning

confidence: 99%

Relationship between Oral Hypofunction and Sarcopenia in Community-Dwelling Older Adults: The Otassha Study

Kugimiya

Iwasaki

Ohara

et al. 2021

IJERPH

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“…The manifestations in patients with GSD V are comparable to those with GSD II. GSD V also affects the muscles, and this is due to the deficiency of muscular phosphorylase [43]. Patients show a muscular intolerance syndrome to the effort, associated with myalgia, cramps, fatigue and muscle weakness.…”

Section: Discussionmentioning

confidence: 99%

“…Only two articles included in our study showed the presence of oral manifestations in patients with GSD V. Both articles reported painful symptoms, such as the presence of cramps, and therefore masticatory difficulty in these patients [42,43].…”

Section: Gsd Vmentioning

confidence: 99%

Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature

et al. 2020

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(1) Background: Glycogen storage disease (GSD) represents a group of twenty-three types of metabolic disorders which damage the capacity of body to store glucose classified basing on the enzyme deficiency involved. Affected patients could present some oro-facial alterations: the purpose of this review is to catalog and characterize oral manifestations in these patients. (2) Methods: a systematic review of the literature among different search engines using PICOS criteria has been performed. The studies were included with the following criteria: tissues and anatomical structures of the oral cavity in humans, published in English, and available full text. Review articles and paper published before 1990 were excluded. (3) Results: 757 articles were identified in the initial search. In the end, 45 articles that met the selection criteria has been analyzed. The information extracted from the articles was classified according to the type of GSD (Ia; Ib; II; III; V; XIV). Oral manifestations range from dental caries to severe periodontitis in paediatric patients, from diffuses and recurrent oral ulcers in the cleft lip and palate. (4) Conclusions: Although considered a rare disease, GSD can present a varied number of oral manifestations. Therefore, it is of great importance for the oral medicine specialist to know and classify them.

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“…There is often observed a decrease in symptoms after a brief period of rest, and this phenomenon is called "second wind", characterized by a partial recovery due to the decrease in cardiac frequency during the rest period, allowing the individual to recover and tolerate exercise for a longer period of time [9]. Recently, it has also been observed that younger individuals with McArdle's disease often present problems with mastication and oral motor function skills [10].…”

Section: Discussionmentioning

confidence: 99%

McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case

JF¹

2018

Arch Case Rep

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McArdle's Disease, or Glycogen Storage Disease Type V, is the result of a defi ciency in one of the enzymes responsible for the metabolism of glycogen in the body. Individuals with this disease, lack or produce very small concentrations of the myophosphorylase or glycogen phosphorylase enzyme. McArdle's disease is a metabolic and recessive genetic disease caused by a mutation on the PYGM gene located on chromosome 11q13. This gene is responsible for the synthesis of the myophosphorylase (or glycogen phosphorylase) enzyme. It is the most common form of muscular glycogenesis. We present here the clinical case of a 35 years old woman diagnosed with McArdle's disease at the age of 21 after a visit to a Neurologist. It was confi rmed that the patient had shown symptoms of this disease at least 10 years before defi nitive diagnosis: intolerance to exercise, asthenia and muscular weakness. In this report we describe the different signs and symptoms of the disease, as well as the tests performed to confi rm the diagnosis by muscle biopsy and genetic analysis. McArdle's disease is classifi ed as a rare disease and often its diagnosis is delayed due to a lack of knowledge about its symptoms and signs. Our intention is to make, with the description of our clinical case, the information about this disease more available to physicians to prevent future misinterpretations and delayed diagnosis. A medical documentary we have created on "McArdle's Disease" can be seen in YouTube using the following links: https://youtu.be/HAhoZ7jxz7Q (English version) and https://youtu.be/uZopzSHOl20 (Spanish version).

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Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints

Abstract: In short, reported mastication difficulties are prevalent in people with McArdle disease, most frequently in younger people. Therefore, awareness of mastication and oral motor problems is required.

Cited by 4 publications

References 9 publications

Relationship between Oral Hypofunction and Sarcopenia in Community-Dwelling Older Adults: The Otassha Study

Relationship between Oral Hypofunction and Sarcopenia in Community-Dwelling Older Adults: The Otassha Study

Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature

McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case

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