This unit from the British Paediatric Neurology Association covers the full spectrum of neuromuscular disease. It provides up-to-date information on how growing knowledge of molecular genetics has contributed to our rapidly expanding understanding of these disorders and changed diagnostic strategy.
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The design, content and management of these courses are the responsibility of the individual specialty groups.
Access to a busy neuromuscular service will bear witness as to how this knowledge is put into practice and a number of sections are devoted specifically to intervention.
- Section 1 – Muscular dystrophy classification, proteins and genes - multisystem Involvement
- Section 2 –
- A. Neurophysiology and imaging in neuromuscular disorders
- B. Dystrophin and Becker muscular dystrophy
- Section 3 – Limb girdle muscular dystrophies, congenital muscular dystrophies and FSHD
- Section 4 –
- Congenital myopathies
- Phenotype genotype correlations in muscular dystrophy and congenital myopathies
- Section 5 - Inflammatory myopathies
- Section 6 – Spinal Muscular Atrophy (SMA)
- Section 7 - Neuropathies
- Section 8 - Neuromuscular junction transmission defects; the childhood myasthenias
- Section 9 – Myotonic dystrophy
- Section 10 – Metabolic and mitochondrial myopathies; Ion channel disorders; malignant hyperthermia susceptibility
- Section 11 – The floppy infant syndrome
- Section 12 – Physiotherapy, orthoses and rehabilitation
- Section 13 – Respiratory complications of NMD
- Section 14 – Cardiac involvement in NMD
- Section 15 – Feeding difficulties, nutritional aspects - Multidisciplinary management / MDC