Respiratory pattern in an adult population of dystrophic patients

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Abstract

We studied respiratory function and Chest Wall kinematics in a large population of adult patients affected by slow course muscular dystrophies such as Limb-Girdle Muscular Dystrophy (LGMD, n = 38), Becker Muscular Dystrophy (BMD, n = 20) and Facio-Scapulo Humeral Dystrophy (FSHD, n = 30), through standard spirometry and through the Optoelectronic Plethysmography, to measure the thoraco-abdominal motion during Quiet Breathing and Slow Vital Capacity maneuvers. Within the restrictive pulmonary syndrome characterizing LGMD and FSHD, several different thoraco-abdominal patterns compared to those of healthy subjects were present in the more advanced stages of the disease. These differences were present in the seated position, during the execution of a maximal maneuver such as Slow Vital Capacity. A global respiratory (both inspiratory and expiratory) muscle involvement was more pronounced in the LGMD and FSHD than in the BMD patients, and a significant reduction of abdominal contribution in wheelchair bound patients was observed. In conclusion, OEP technique is able to reveal mild initial modifications in the respiratory muscles in FSHD and LGMD patients, which could be helpful for functional and new therapeutic strategy evaluation.

Introduction

Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular disorders. While numerous reports are available on respiratory involvement in Duchenne Muscular Dystrophy (DMD) or Spinal Muscle Atrophy (SMA) [1], [2], [3], [4], [5], [6], [7] only few studies have focused specifically on slowly progressive neuromuscular disorders such as Limb-Girdle Muscular Dystrophy (LGMD), Becker Muscular Dystrophy (BMD) and Facio-Scapulo Humeral Dystrophy (FSHD). LGMD patients generally show a mild global respiratory muscle weakness that usually affects expiratory more than inspiratory muscles, in the absence of significant involvement of the diaphragm [8], [9]. Some LGMD patients, however, experience chronic cough, dyspnoea on exertion, recurrent respiratory tract infections and signs of alveolar hypoventilation [10]. In BMD, cardiac involvement is the dominant feature and respiratory insufficiency is only rarely reported [11], [12], [13]. In FSHD pulmonary dysfunction tends to be mild and frequently associated with obstructive sleep apnea related to upper airway muscle weakness [14], [15], [16], [17]. Respiratory insufficiency requiring ventilatory support is rare and occurs relatively late in the course of the disease, although alveolar hypoventilation has recently been described as an early sign of FSHD [18], [19]. As respiratory muscle weakness may precede symptoms of alveolar hypoventilation, the aim of the present work was to study the Chest Wall function in a large population of patients affected with LGMD, BMD and FSHD. In addition to the standard respiratory and functional evaluation, Optoelectronic Plethysmography was applied in seated and supine positions in order to measure thoraco-abdominal motion and to quantitatively characterize Chest Wall kinematics, reflecting respiratory muscle action.

Section snippets

Subjects

Eighty-eight patients with muscular dystrophies (MDs) (38 affected with LGMD, 20 with BMD and 30 with FSHD) were studied. A control group (CG) of 20 healthy age matched volunteers was also recruited.

All subjects were at least 18 years old and had a confirmed clinical and molecular diagnosis of LGMD, BMD and FSHD, according to international criteria [10], [20], [21], [22], [23].

The group of LGMD patients was constituted by 11 patients with LGMD2A, 16 with LGMD2B and 11 with LGM2C, 2D, 2E and 2I

Clinical and anthropometric data

The three groups of patients and the control group had similar anthropometric characteristics (Table 1). FSHD patients were older than BMD and healthy controls (respectively, p = 0.006 and p = 0.037). LGMD patients showed lower AMS values than BMD (p = 0.002).

Considering the whole population of dystrophic patients, an earlier disease onset (p = 0.037) and a longer disease duration (p = 0.001) were observed in the W compared to the A group, without significant differences in age. Within LGMD and BMD

Discussion

In the present study we have used for the first time the OEP technique in slow course muscular dystrophies such as LGMD, FSHD and BMD, in order to verify if differences in the thoraco-abdominal pattern were present.

Our method was able to show that differences were present 1) between dystrophic patients and healthy subjects, 2) between the three different MDs and 3) between ambulant and wheelchair-bound patients.

In particular, the most relevant differences in thoraco-abdominal contribution were

Abbreviations

    DMD

    Duchenne Muscular Dystrophy

    SMA

    Spinal Muscle Atrophy

    LGMD

    Limb-Girdle Muscular Dystrophy

    BMD

    Becker Muscular Dystrophy

    FSHD

    Facio-Scapulo Humeral Dystrophy

    MDs

    Muscular Dystrophies

    CG

    control group

    IRCCS

    Istituto di Ricerca e Cura a Carattere Scientifico (Research and Clinical Scientific Institute)

    ECG

    Electrocardiogram

    MRC

    British Medical Research Council

    AMS

    Average Muscle Score

    FVC

    Forced Vital Capacity

    FEV1

    Forced Expiratory Volume in one second

    PEF

    Peak Expiratory Flow

    FRC

    Functional Residual Capacity

    RV

    Residual

Acknowledgments

This work was partially supported by Fondazione Cariplo (Hint@lecco project), Italian Ministry of Health (PS-Riabil ex 56/05/2) and an IIT (Italian Institute of Technology)-Polimi agreement (WP2).

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    These authors contributed equally to this manuscript.

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