The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience

Abstract

The clinical phenotypes and disease course in our cohort were consistent with that reported in previous studies. However, the proportion of point mutations or small deletions or insertions in our study was considerably higher than that in reports from other populations. Cardiac ejection fraction was found not a reliable biomarker for identifying cardiac problems, discovering a better parameter is necessary.

Clinical and Molecular Diagnosis in Muscular Dystrophies

“…The onset of clinical features is in early childhood with delayed motor milestones, including delayed independent walking, with a mean age of walking of 18 months, and difficulties in standing up from the floor. The most characteristic clinical features of DMD are general motor delays (42%) and gait problems including persistent toe walking and flat-footedness (30%) [25]. Patients with DMD have a waddling gait and difficulties in climbing stairs, running, jumping, and standing up due to proximal weakness [26].…”

“…The boys have hypertrophic and firm calf muscles [27]. The disease is rapidly progressive, at the age of 12 years, most boys being wheelchair bound [25]. Subsequently, the function of upper extremity will be lost, and, by the age of 14-15 years, cardiomyopathy is a common feature [26]; during the teenage years, the patients will require assisted ventilation [27].…”

“…BMD is a milder form of muscular dystrophy characterized by skeletal muscle weakness with a later onset and a preservation of the gait for a longer period (age of 40-50 years) [25]. The patients present usually with high serum CK concentration, calf muscle hypertrophy, muscle cramps, myalgia, or with muscle weakness in the pelvic and shoulder girdles [26].…”

“…EDMD is a muscular disorder with different inheritance patterns: X-linked recessive or autosomal dominant or autosomal recessive [25,26]. The clinical picture includes the classical triad: (i) early joint contractures, (ii) slowly progressive muscle weakness and wasting in humeroperoneal distribution (upper arm, lower legs), and (iii) cardiac disease (atrial-ventricular conduction anomalies, atrial arrhythmias) [27].…”

“…Cardiac involvement is not common in FSHD. 5-10% of patients can present supraventricular arrhythmias, mostly asymptomatic [25]; an incomplete right bundle branch block has been found in approximately one-third of patients in one study [26], with no significant progression.…”