Congenital myopathies: characteristic and subtypes in Hong Kong

This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an underlying diagnosis is often challenging. This is the first congenital myopathy case series in Hong Kong. A total of 15 patients have been diagnosed to have congenital myopathies with 11 patients had the genetic mutations being identified (4 patients had RYR1 mutations, 3 patients had ACTA1 mutations, 2 patients had KLHL40 mutations, 1 patient had MTM1 mutation and 1 patient had DNM2 mutation).postprin

Parental restriction reduces the harmful effects of in-bedroom electronic devices

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Spinal Muscular Atrophy - Hong Kong experience

Plenary Session I: Spinal Muscular Atrophy, SMA - Panel discussion: Experiences Sharing of Diagnosis, Standard of Care and Clinical Trials of SMA in Asia and Oceanian Are

Diagnosing Neuromuscular Disorders: Are We Doing Better Than Before?

Neuromuscular Disorder SymposiumDiagnosing a neuromuscular disorder is a multi-step process and often involves several tests. When considering the differential diagnosis, often the patient’s clinical symptoms and signs, and family history, give an important clue. The most important diagnostic tests include biochemical testing, nerve conduction study and electromyography, muscle imaging, muscle biopsy, and molecular genetic study. How each of these diagnostic modalities helps in the confirmation of both rare and more common neuromuscular disorders will be illustrated through the following examples: collagen VI-related congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome, Duchenne muscular dystrophy, and spinal muscular atrophy. How a confirmed diagnosis helps the management of our patients with these different neuromuscular conditions will also be highlighted

Diagnosis and Treatment of Neuromuscular Diseases – Local Advancement and Challenges

Symposium C2: Theme: Neurology 2 - Neuromuscular Disoder, the Treatment, the Multidisciplinary Care and Quality of Life IssuesPaediatric neuromuscular diseases (NMDs) describes a group of hereditary condition associated with disorders in the spinal motor neurons, peripheral nerves, neuromuscular junction and muscles, that often lead to muscle weakness, motor difficulties and sometimes other systems are also involved. Some of these conditions could have a progressive deteriorating course. In this review an update regarding the most common neuromuscular diseases like spinal muscular atrophy and Duchenne muscular dystrophy, as well as the rare hereditary NMDs including non-5q SMA, congenital muscular dystrophy, congenital myopathy and congenital myasthenic syndrome will be discussed focusing on the contemporary approach to diagnosis and treatment in our locality. Several promising therapeutics are now being actively tested in clinical trials for some common neuromuscular diseases with the current better understanding of the underlying genetic pathogenic mechanism causing the important protein loss or dysfunction. While we are actively participating in some of these internationally collaborated trials, the local patient registry, the standardization of care and the closely collaborated teamwork allows the early identification and recruitment of the suitable patients. With the recent overseas approval of some of the expensive treatment, we will also face a new era of management for our patients and families , with new challenges too very soon

Neuromuscular involvement in children with mitochondrial disease: A single centre experience

Poster presentation: no. P1-14

Forwards and backwards – synthesis of Laurencia natural products using a biomimetic and retrobiomimetic strategy incorporating structural reassignment of laurefurenynes C–F

Laurefurenynes C–F are four natural products isolated from Laurencia species whose structures were originally determined on the basis of extensive nuclear magnetic resonance experiments. On the basis of a proposed biogenesis, involving a tricyclic oxonium ion as a key intermediate, we have reassigned the structures of these four natural products and synthesized the four reassigned structures using a biomimetic approach demonstrating that they are the actual structures of the natural products. In addition, we have developed a synthesis of the enantiomers of the natural products laurencin and deacetyllaurencin from the enantiomer of (E)-laurefucin using an unusual retrobiomimetic strategy. All of these syntheses have been enabled by the use of tricyclic oxonium ions as pivotal synthetic intermediates