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Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

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@article{30149d1a0a3f4d2db83ff6eea9d64588,
title = "Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy",
abstract = "OBJECTIVES: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD).MATERIALS AND METHODS: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical history, ptosis, ophthalmoplegia, facial and limb strength, and swallowing capability. Cardiopulmonary function was evaluated using forced expiratory capacity in 1 s (FEV1), electrocardiogram (ECG), Holter monitoring, and echocardiography.RESULTS: We included 13 symptomatic patients (six males, mean age; 64 years (41-80) from 8 families. Ptosis was the first symptom in 8/13 patients followed by limb weakness in the remaining 5 patients Dysphagia was never the presenting symptom. At the time of examination, all affected patients had ptosis or had previously been operated for ptosis, while ophthalmoplegia was found in 9 patients. Dysphagia, tested by cold-water swallowing test, was abnormal in 9 patients (17-116 s, ref <8 s). Six patients could not climb stairs of whom two were wheelchair bound and one used a rollator. Six patients had reduced FEV1 (range 23%-59%). No cardiac involvement was identified.CONCLUSIONS: Limiting limb weakness is common in OPMD and can even be the presenting symptom of the disease. In contrast, dysphagia was not the initial symptom in any of our patients, although it was obligatory for diagnosing OPMD before genetic testing became available. Mild respiratory dysfunction, but no cardiac involvement, was detected.",
keywords = "Adult, Aged, Aged, 80 and over, Cross-Sectional Studies, Female, Heart, Humans, Lung, Male, Middle Aged, Muscle Weakness, Muscle, Skeletal, Muscular Dystrophy, Oculopharyngeal",
author = "N Witting and A Mensah and L K{\o}ber and H Bundgaard and H Petri and M Duno and D Milea and J Vissing",
note = "{\textcopyright} 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2014",
month = aug,
doi = "10.1111/ane.12244",
language = "English",
volume = "130",
pages = "125--30",
journal = "Acta Neurologica Scandinavica",
issn = "0001-6314",
publisher = "Wiley-Blackwell Munksgaard",
number = "2",

}

RIS

TY - JOUR

T1 - Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

AU - Witting, N

AU - Mensah, A

AU - Køber, L

AU - Bundgaard, H

AU - Petri, H

AU - Duno, M

AU - Milea, D

AU - Vissing, J

N1 - © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2014/8

Y1 - 2014/8

N2 - OBJECTIVES: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD).MATERIALS AND METHODS: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical history, ptosis, ophthalmoplegia, facial and limb strength, and swallowing capability. Cardiopulmonary function was evaluated using forced expiratory capacity in 1 s (FEV1), electrocardiogram (ECG), Holter monitoring, and echocardiography.RESULTS: We included 13 symptomatic patients (six males, mean age; 64 years (41-80) from 8 families. Ptosis was the first symptom in 8/13 patients followed by limb weakness in the remaining 5 patients Dysphagia was never the presenting symptom. At the time of examination, all affected patients had ptosis or had previously been operated for ptosis, while ophthalmoplegia was found in 9 patients. Dysphagia, tested by cold-water swallowing test, was abnormal in 9 patients (17-116 s, ref <8 s). Six patients could not climb stairs of whom two were wheelchair bound and one used a rollator. Six patients had reduced FEV1 (range 23%-59%). No cardiac involvement was identified.CONCLUSIONS: Limiting limb weakness is common in OPMD and can even be the presenting symptom of the disease. In contrast, dysphagia was not the initial symptom in any of our patients, although it was obligatory for diagnosing OPMD before genetic testing became available. Mild respiratory dysfunction, but no cardiac involvement, was detected.

AB - OBJECTIVES: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD).MATERIALS AND METHODS: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical history, ptosis, ophthalmoplegia, facial and limb strength, and swallowing capability. Cardiopulmonary function was evaluated using forced expiratory capacity in 1 s (FEV1), electrocardiogram (ECG), Holter monitoring, and echocardiography.RESULTS: We included 13 symptomatic patients (six males, mean age; 64 years (41-80) from 8 families. Ptosis was the first symptom in 8/13 patients followed by limb weakness in the remaining 5 patients Dysphagia was never the presenting symptom. At the time of examination, all affected patients had ptosis or had previously been operated for ptosis, while ophthalmoplegia was found in 9 patients. Dysphagia, tested by cold-water swallowing test, was abnormal in 9 patients (17-116 s, ref <8 s). Six patients could not climb stairs of whom two were wheelchair bound and one used a rollator. Six patients had reduced FEV1 (range 23%-59%). No cardiac involvement was identified.CONCLUSIONS: Limiting limb weakness is common in OPMD and can even be the presenting symptom of the disease. In contrast, dysphagia was not the initial symptom in any of our patients, although it was obligatory for diagnosing OPMD before genetic testing became available. Mild respiratory dysfunction, but no cardiac involvement, was detected.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Cross-Sectional Studies

KW - Female

KW - Heart

KW - Humans

KW - Lung

KW - Male

KW - Middle Aged

KW - Muscle Weakness

KW - Muscle, Skeletal

KW - Muscular Dystrophy, Oculopharyngeal

U2 - 10.1111/ane.12244

DO - 10.1111/ane.12244

M3 - Journal article

C2 - 24611576

VL - 130

SP - 125

EP - 130

JO - Acta Neurologica Scandinavica

JF - Acta Neurologica Scandinavica

SN - 0001-6314

IS - 2

ER -

ID: 44916742