Molecular diagnosis of dystrophinopathies using a multi‐technique analysis algorithm

Introduction: Dystrophinopathies are X‐linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation‐dependent probe amplification (MLPA), and short tandem‐repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at‐risk haplotype. Results: The selected methodology allowed for characterization of 2 single‐exon out‐of‐frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease‐causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. Muscle Nerve 49 : 249–256, 2014     

Reachable workspace and performance of upper limb (PUL) in duchenne muscular dystrophy

Introduction: The Kinect‐based reachable workspace relative surface area (RSA) is compared with the performance of upper limb (PUL) assessment in Duchenne muscular dystrophy (DMD). Methods: 29 individuals with DMD (ages: 7–23; Brooke: 1–5) underwent both Kinect‐based reachable workspace RSA and PUL assessments. RSAs were also collected from 24 age‐matched controls. Total and quadrant RSAs were compared with the PUL total, shoulder‐, middle‐, and distal‐dimension scores. Results: The total reachable workspace RSA correlated well with the total PUL score (Spearman ρ = ‐0.602; P < 0.001), and with each of the PUL dimensional scores: shoulder (ρ = ‐0.624; P < 0.001), middle (ρ = ‐0.564; P = 0.001), and distal (ρ = ‐0.630; P < 0.001). With quadrant RSA, reachability in a particular quadrant was closely associated with respective PUL dimensional‐level function (lateral‐upper quadrant for shoulder‐, lateral‐upper/lower quadrants for middle‐, and lateral‐lower quadrant for distal‐level function). Conclusions: This study demonstrates concurrent validity of the reachable workspace outcome measure (RSA) with the DMD‐specific upper extremity outcome measure (PUL). Muscle Nerve 53: 545–554, 2016     

Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

Background

Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic behavior, psychiatric diseases, and other social difficulties in school life and employment.

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome

Introduction

Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms.