Myology research highlights
RSS feedDM2: exceptional congenital forms, maternally transmitted, associated with foot deformity
Only three cases of congenital myotonic dystrophy type 2 (DM2) have been reported so far. In all cases, the disease was transmitted from the mother and the children had bilateral club feet or unilateral club feet. A Dutch team reports a case of an 8-year-old girl with DM2 who was born with a valgus flat … [Read more]
Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations
In order to reduce regional disparities in cardiological care for boys and female transmitters with dystrophinopathy, a working group (adult and child cardiologists, neuromuscular physicians and nurses, patient representatives), has published recommendations for follow-up and preventive care to be implemented at diagnosis and curative care once heart failure is detected. This consensus applies to children … [Read more]
A new composite score for the evaluation of Kennedy disease
Japanese researchers have developed a new way of assessing Kennedy disease, a form of adult bulbospinal muscular atrophy (SBMA) that is very common in Japan. The assessment included functional scores and quantified measures of muscle strength, in particular, lingual and wrist muscle strength, respiratory function tests and a timed walking test. 97 patients with SBMA … [Read more]
Masseter muscle volume as a biomarker in DM1?
In the context of therapeutic trials in development for myotonic dystrophy type 1 (DM1), the search for reliable and relevant clinical or paraclinical criteria is still ongoing. A group of British researchers has focused on one of them specifically. The volume of the masseter muscle was assessed on imaging (brain MRI) in 39 patients with … [Read more]
Myasthenia and thymoma in children: a very rare association
In the context of a recent revision of the classification and recommendations for certain rare cancers, Italian researchers conducted a comprehensive review of the literature to determine the frequency and impact of thymus tumors, particularly in children with myasthenia gravis. Thirty-two articles were selected corresponding to 82 cases of pediatric thymomas diagnosed in the last … [Read more]
Magnetic resonance imaging useful for measuring the impact of motor neuron loss in SMA
German researchers have developed a multiparametric neuromuscular imaging protocol to estimate the impact and follow the evolution of motor neuron loss in patients with spinal muscular atrophy (SMA): 13 adult patients and a control group participated in the study. The study consisted of imaging of the sciatic nerve and two muscles of the thigh (biceps … [Read more]
Exoskeleton and SMA: first feedback
An exoskeleton is a complex and sophisticated piece of equipment that can partially compensate for a person’s motor deficiencies in the context of paralysis. Spanish researchers have developed one of these tools by adapting it to the specific needs of patients with spinal muscular atrophy (SMA). They report on a real-life experience with a young … [Read more]
A first observation of a gender effect in SMA
Italian clinicians investigated new predictive factors for the evolution of SMA according to age, type of SMA and gender in 165 adult patients. There were 64 females and 101 males: 13% with type II, 85% with type III and 2% with type IV SMA and with 46% able to sit (sitters) and 54% able to walk … [Read more]
Firdapse® in Myasthenia Gravis too?
3,4-diaminopyridine or amifampridine (Firdapse®) is already indicated in some myasthenic syndromes, congenital or autoimmune (Lambert-Eaton). In the past, case reports had alerted to the possible efficacy of this drug in myasthenia gravis as well. The results of an open-label clinical trial conducted in Italy in 15 adults with anti-acetylcholine receptor (AChR) myasthenia gravis support these … [Read more]
Barriers to heart transplantation in MELAS syndrome remain numerous
MELAS syndrome is associated with mitochondrial encephalomyopathy, elevated lactic acid and pseudo strokes. Impairment of cardiac and renal function is also frequently reported. Italian researchers retrospectively studied the cardiac status of 23 MELAS patients diagnosed in 1998 and 2021 : all had been referred to cardiology for evaluation of first hypertrophic and then dilated cardiomyopathy. … [Read more]
