Blog Archives
Significant clinical variability in motor function in early-onset FSHD
This study investigated motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age. Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older … [Read more]
Monosomy 18p is a risk factor for FSHD
Partial or full monosomy of the short arm of chromosome 18 results in the rare disorder, 18p deletion syndrome. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is hemizygous in most patients with 18p … [Read more]
Identification of novel non-invasive biomarkers for DMD
In this article, the authors studied the signature of 87 urinary miRNAs in Duchenne muscular dystrophy (DMD) patients, selected the most dysregulated and determined statistically significant differences in their expression between controls, ambulant (A) and non-ambulant (NA) DMD patients, and patients on different corticosteroid regimens. Their results revealed that miR-29c-3p was significantly downregulated in … [Read more]
Minimally invasive fusionless surgery for neuromuscular scoliosis
Spinal deformities are common in neuromuscular diseases. Conventional treatment involves bracing, followed by spinal instrumented fusion. Growing rod techniques are increasingly advocated but have a high rate of complications. This retrospective review aimed to report the results of an alternative technique using a minimally invasive fusionless surgery. The originality is based on the progressive … [Read more]
Development of a prognostic score in patients with Myotonic Dystrophy type 1
Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. In this cohort study involving 1296 adults with DM1, the authors aimed to develop a model to predict … [Read more]
Release of the 66th newsletter from the Institute
Final result of 89,189,384 euros for Telethon 2017, thank you! The 31st Telethon edition reaches a final result of 89,189,384 euros. On 8th and 9th December 2017, the Telethon enthralled the public throughout France. See you on December 7th and 8th 2018! In February 1958, a handful of parents who were outraged by the ignorance … [Read more]
Post-doctoral position available at Myology Institute, Research Center, Paris
Within the EU-H2020 Solve-RD project “Solving the unsolved Rare Diseases” a postdoctoral position is available in the team of Gisèle Bonne (Centre of Research in Myology, Team 1, Genetics, Pathophysiology & Therapeutic approaches of muscle diseases). The position is available from June 2018. > Download the complete advertising
The Wilmington Robotic Exoskeleton improves upper extremity function in patients with DMD
Patients with Duchenne muscular dystrophy in their second decade of life present with decreased upper extremity strength and active range of motion (AROM) that limit activities of daily living (ADLs). Here, the authors evaluated the ability of the Wilmington Robotic Exoskeleton (WREX) to improve AROM and independence with ADLs. A retrospective chart review of … [Read more]
Updating the classification of inherited neuropathies
The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised. The authors of the present study have recently published a proposal to update the classification of inherited neuropathies. Following positive feedback from the proposal, they performed an internet survey (from … [Read more]
Correlation between SMA phenotype and SMN2 copy number
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified into type I (never sit), II (never walk unaided) or III (achieve independent walking abilities). SMN2, the highly homologous copy of SMN1, is considered … [Read more]
