Blog Archives
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
Compared with 20 healthy controls, the gait pattern and locomotion performance of 18 people with late-onset Pompe disease were found to be significantly impaired. Hip abductor strength is the main determinant of locomotor performance, gait stability and pelvic stability. Hip flexor strength is critical for knee and hip kinetics during gait. The duration of unipodal … [Read more]
Muscle imaging can show lesions in periodic paralysis
Periodic paralysis (PP) is an ultra-rare muscle channelopathy characterized by episodes of transient, sometimes prolonged, motor deficits. British researchers conducted a muscle imaging study of the lower limbs of 45 patients diagnosed with PP: 17 patients had a mutation in a calcium channel gene, 16 in a sodium channel gene and 12 in a potassium … [Read more]
An unusual case of dermatomyositis with muscle hypertrophy and neuromyotonia
Texas clinicians report the highly atypical case of a 65-year-old patient initially diagnosed with dermatomyositis on the basis of classic disease criteria: the initial picture consisted of a muscle deficit that appeared a few weeks after a rash on the face, the work-up revealed hyperCKemia at 4,000 IU/l, positive autoantibodies to Mi2, inflammatory infiltrates and … [Read more]
Description of an Iranian cohort of patients with megaconium myopathy
Megaconial myopathy is an ultra-rare neuromuscular disease caused by recessive mutations in the CHKB gene encoding an enzyme involved in lipid transport. Researchers report the clinical and biological data of 13 patients diagnosed in Iran in recent years: the 13 patients came from 11 consanguineous families, The phenotype invariably combined motor disorders of varying intensity, … [Read more]
Description of a Dutch cohort of patients with LAMA2-related muscular dystrophy
Pathological variants in the LAMA2 gene encoding merosine cause very early onset muscular dystrophy (CMD), but not always (then they are clinical pictures of limb-girdle myopathy). Dutch clinicians report the clinical and biological data of 27 patients: Twelve had a very early onset but survived into adulthood, The median age of this single-centre cohort was … [Read more]
Sugar before exercise, but not after the second breath in McArdle’s disease
A Dutch-Danish team conducted a randomised, double-blind, placebo-controlled crossover study involving nine patients with McArdle’s disease, or type V glycogenosis: ingestion, 10 minutes before the start of a 60-minute submaximal exercise test on an ergocycle, of a sweetened sports drink (in this case Faxe Kondi©) did result in a significant improvement in exercise tolerance, as … [Read more]
A simple algorithm for predicting respiratory impairment in myotonic dystrophies
German researchers have developed a method to better detect ventilatory disorders in patients with DM1 or DM2 myotonic dystrophy. The method is based on a checklist known as “Respicheck”, which takes into account several clinical parameters coupled with functional respiratory tests: 172 people took part in a complementary study to validate Respicheck, 74 had DM1, … [Read more]
The French experience of intolerance to ERT in certain patients with Pompe disease
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register: just over 10% of … [Read more]
Japanese study identifies cardiac determinants of sudden death in DM1
Sudden death is a not uncommon event in the evolution of patients suffering from myotonic dystrophy type 1 (DM1). Japanese researchers have analysed the clinical, genetic and pathological data from three of these patients who died prematurely: the three patients, one male and two females, were aged 18, 25 and 35 respectively; only the 25-year-old … [Read more]
Myotubular myopathy: in zebrafish, hepato-biliary damage is due to loss of function of myotubularin
A North American team has characterised the liver phenotype of a zebrafish model of myotubular myopathy. The loss-of-function anomaly in mtm1 results in impaired bile flow and structural anomalies in the bile canaliculi, with inadequate endosomal trafficking of bile transporters. Hepatocyte re-expression of myotubularin 1 is sufficient to at least partially restore these abnormalities. Two … [Read more]
