Myology research highlights
RSS feedThe surgical treatment of myopathic ptosis remains complex
Many neuromuscular diseases are accompanied by ptosis of myopathic origin. The main mechanism is a deficit of the eyelid levator muscle. American ophthalmologists conducted a review of the literature on the surgical treatment of this complication: 27 articles, each with at least four original cases, came to their attention, CPEO (chronic progressive external ophthalmoplegia), oculopharyngeal … [Read more]
DMB: cognitive and behavioral disorders better characterized
Two teams evaluated the cognitive and behavioural problems of persons with Becker muscular dystrophy (BMD) in adults and in children aged 5 to 18 years. The first natural history study, published in June 2022, was conducted over four years and involved 28 adults with BMD. The average IQ score was lower than in the general … [Read more]
Neonatal screening for Pompe disease in Italy shows higher than expected incidence
The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period and found: an incidence of 1 in 18,795 (i.e. 39 newborns with Pompe disease out of 206,741 tested). As in other countries (Taiwan, Japan, United States, etc.), newborn screening has revealed an increasing incidence of the … [Read more]
DM2: 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]
