Blog Archives

This study used Department of Defense Military Healthcare System (MHS) data from 2003-2012 to evaluate the economic burden of spinal muscular atrophy (SMA). Healthcare costs were determined for patients with at least one inpatient or three outpatient claims with a diagnosis of SMA before 18 years of age and who had ≥ 6 months of … [Read more]

This study evaluated gait using lower-trunk accelerometry and investigated relationships between gait abnormalities, postural instability, handgrip myotonia, and weakness in lower-limb and axial muscle groups commonly affected in myotonic dystrophy type 1 (DM1). Twenty-two patients (11 men, 11 women; age = 42 years (range: 26-51)) with DM1 and twenty healthy controls (9 men, 11 women; age = 44 years … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease. To date, no treatment is available for FSHD. Human embryonic stem cells (hESCs) potentially represent a renewable source of skeletal muscle … [Read more]

  This cross-sectional study investigated the relation between validated functional scores and quantitative MRI (qMRI) of thigh muscles in 20 ambulatory Becker muscular dystrophy (BMD) patients, aged 18.3-60 years (mean 31.2; SD 11.1). Clinical assessments included the motor function measure (MFM) and its subscales, as well as timed function tests such as the 6-minute walk … [Read more]

  This study aimed to develop genome therapy in human Mytonic dystrophy type 1 (DM1) induced pluripotent stem (iPS) cells to eliminate mutant transcripts and reverse the phenotypes for developing autologous stem cell therapy. The general approach involves targeted insertion of polyA signals (PASs) upstream of DMPK CTG repeats, which will lead to premature termination … [Read more]

In Duchenne muscular dystrophy (DMD), progressive loss of respiratory function leads to restrictive pulmonary disease and places patients at significant risk for severe respiratory complications. Of particular concerns are ineffective cough, secretion retention and recurrent respiratory tract infections. In a Phase 3 randomized controlled study (DMD Long-term Idebenone Study, DELOS) in DMD patients 10-18 years … [Read more]

  Tracheostomy, which many DMD patients undergo, is associated with certain complications. However its effect on prognosis is not known. The relationship between type of mechanical ventilation and survival at 12 years was evaluated in a prospective cohort of patients with Duchenne muscular dystrophy followed in a French reference center for Neuromuscular Diseases. Cox proportional-hazards … [Read more]

  Neurodegenerative disorders represent a wide group of diseases affecting the central and/or peripheral nervous system. Many of these disorders were described in the 19th century, but our genetic knowledge of them is recent (over the past 25 years). However, the continual discovery of disease-causing gene mutations has led to difficulties in the classification of … [Read more]

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by motor neurons degeneration and muscular atrophy. There is no effective SMA treatment. Loganin is a botanical candidate with anti-inflammatory, anti-oxidant, glucose-lowering and anti-diabetic nephropathy activities. This study investigated the potential protective effects of loganin on SMA using two cellular models, SMN-deficient NSC34 cells … [Read more]

Team 5 from the Centre for Research at the Institute of Myology, led by France Piétri-Rouxel (Sorbonne Universities, Pierre and Marie Curie University / Inserm / CNRS / Institute of Myology) enabled to define a threshold of muscular fibres containing the dystrophin needed to normalize the condition of proteins essential to the contractile function of … [Read more]