Blog Archives
Early-onset LMNA-related muscular dystrophy is mainly due to de novo mutations in the LMNA gene
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of … [Read more]
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype-genotype relationships that propel the pathology of this disabling disease. Two unrelated children who had severe reduction deficits of the hands and feet with absence of nails, progressive heterotopic ossification, hypoplasia of the … [Read more]
Parent Project Muscular Dystrophy: Development of the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration
Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. In this article, the authors describe how the Duchenne muscular dystrophy community-led by Parent Project Muscular Dystrophy-created a proposed draft guidance … [Read more]
Measuring disease burden with the myotonic dystrophy health index
The Myotonic Dystrophy Health Index (MDHI) is a disease-specific patient-reported outcome measure. Here, the associations between the MDHI and other measures of disease burden in a cohort of 70 individuals with myotonic dystrophy type-1 (DM1) were measured. Participants completed assessments of strength, myotonia, motor and respiratory function, ambulation, and body composition. They also provided blood … [Read more]
MYOM3 fragments are biomarkers for the detection, evaluation and treatment monitoring of muscular dystrophies
Therapy-responsive biomarkers are an important and unmet need in the muscular dystrophy field where new treatments are currently in clinical trials. By using a comprehensive high-resolution mass spectrometry approach and western blot validation, two fragments of the myofibrillar structural protein myomesin-3 (MYOM3) were found to be abnormally present in sera of Duchenne muscular dystrophy (DMD) … [Read more]
Ocular and neurodevelopmental characteristics in Duchenne muscular dystrophy
Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD). In this study, the ocular characteristics and neuropsychiatric profile of 16 DMD boys … [Read more]
Clinical characteristics of megaconial congenital muscular dystrophy
A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. Here, the authors define the clinical characteristics in 15 patients, from 14 unrelated families with so-called ‘megaconial … [Read more]
FAT1 expression and disease onset in FSHD muscles
Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. The authors of the present … [Read more]
Predominant expiratory muscle dysfunction in FSHD
Respiratory insufficiency in facioscapulohumeral muscular dystrophy has rarely been studied. This study compared two age- and sex-matched groups of 29 patients, with and without respiratory dysfunction. Tests in the 29 patients with respiratory dysfunction suggested predominant expiratory muscle dysfunction, leading to ineffective cough in 17 patients. Supine and upright vital capacities were not different (P = 0.76), … [Read more]
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy
Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and age-matched … [Read more]
