Gastrointestinal Dysfunction in Patients with Duchenne Muscular Dystrophy.

Christian M Lo Cascio,Sena Bluemel,Tsogyal D Latshang,Thomas Frauenfelder,Oliver Goetze,Konrad E Bloch,Maurilio Sampaolesi

doi:10.1371/journal.pone.0163779

Abstract

BackgroundIn adult patients with Duchenne muscular dystrophy (DMD) life-threatening constipation has been reported. Since gastrointestinal function in DMD has not been rigorously studied we investigated objective and subjective manifestations of gastrointestinal disturbances in DMD patients.MethodsIn 33 patients with DMD, age 12–41 years, eating behavior and gastrointestinal symptoms were evaluated by questionnaires. Gastric emptying half time (T1/2) and oro-cecal transit time (OCTT) were evaluated by analyzing 13CO2 exhalation curves after ingestion of 13C labeled test meals. Colonic transit time (CTT) was measured by abdominal radiography following ingestion of radiopaque markers.ResultsThe median (quartiles) T1/2 was 187 (168, 220) minutes, the OCTT was 6.3 (5.0, 7.9) hours, both substantially longer than normal data (Goetze 2005, T1/2: 107±10; Geypens 1999, OCTT 4.3±0.1 hours). The median CTT was 60 (48, 82) hours despite extensive use of laxative measures (Meier 1995, upper limit of normal: 60 hours). T1/2 and OCTT did not correlate with symptoms evaluated by the Gastroparesis Cardinal Symptom Index (GCSI) (Spearman r = -0.3, p = 0.1; and r = -0.15, p = 0.4, respectively). CTT was not correlated with symptoms of constipation assessed by ROME III criteria (r = 0.12, p = 0.5).ConclusionsDMD patients have a markedly disturbed gastrointestinal motor function. Since objective measures of impaired gastrointestinal transport are not correlated with symptoms of gastroparesis or constipation our findings suggest that measures assuring adequate intestinal transport should be taken independent of the patient’s perception in order to prevent potentially life threatening constipation, particularly in older DMD patients.

Highlights

Duchenne Muscular Dystrophy (DMD) is the most common form of the inherited muscular dystrophies affecting approximately one in 3,300 male births
T1/2 and oro-cecal transit time (OCTT) did not correlate with symptoms evaluated by the Gastroparesis Cardinal Symptom Index (GCSI) (Spearman r = -0.3, p = 0.1; and r = -0.15, p = 0.4, respectively)
Gastroparesis or constipation our findings suggest that measures assuring adequate intestinal transport should be taken independent of the patient’s perception in order to prevent potentially life threatening constipation, in older DMD patients

Summary

Introduction

Duchenne Muscular Dystrophy (DMD) is the most common form of the inherited muscular dystrophies affecting approximately one in 3,300 male births. DMD leads to progressive muscular weakness, severe physical disability and death.[1, 2] Most DMD patients become wheelchair-bound in childhood, and they depend largely on their parents or caregivers for their daily activities and care.[3, 4] In more advanced stages of the disease, the progressive spinal and chest wall deformity and the impairment of respiratory muscle function lead to hypercapnic respiratory failure around the age of 20 years, and cardiac muscle involvement may entail congestive heart failure.[5] Non-invasive positive-pressure ventilation and other supportive measures prolong survival of patients with DMD,[6] who report a surprisingly high quality of life in domains not directly related to their physical impairment.[6]. In adult patients with Duchenne muscular dystrophy (DMD) life-threatening constipation has been reported. Since gastrointestinal function in DMD has not been rigorously studied we investigated objective and subjective manifestations of gastrointestinal disturbances in DMD patients

Results

Discussion

Conclusion