Unit 05 Neuromuscular Disorders
This unit 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. 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.Method of delivery: Online
Study Hours: 46.0
Continuing Professional Development Points: 46.0. You will be able to download a pdf of your CPD certificate following completion of each section within the unit.
Unit 05 Neuromuscular Disorders
This section will enable you to understand the classification of muscular dystrophies, and the impact of advances in molecular genetics in the last two decades. Raise awareness of the multisystem nature of many of the muscular dystrophies and the population frequencies for the common dystrophies.
In this section, first of all we are going to reappraise the role of neurophysiology and imaging in the diagnosis of neuromuscular disease in this modern molecular genetic era. We shall then consider Duchenne muscular dystrophy, the many ways it may present, its investigation natural history and how that outlook may be modified by various interventions. We shall then compare this with Becker muscular dystrophy.
We are now going to explore the pathophysiological basis of the limb girdle and congenital muscular dystrophies. We shall then take a look at their variable phenotypes and their importance in chasing the molecular genetic diagnosis. After that we shall relate the presence of cardiac complications and brain involvement to specific muscular dystrophies and see how these and other features enable clinical recognition of FSHD phenotype.
This section will enable you to understand the structural basis of the congenital myopathies, their clinical phenotypes and to familiarize yourself with their molecular genetic basis and how one phenotype may be due to mutations in different genes, and how also one genotype may be lead to different clinical phenotypes.
At the end of this section you will have knowledge of the spectrum of paediatric inflammatory myopathies (IM) and their management.
This section covers the clinical picture of spinal muscular atrophy, including confirmation of the diagnosis, and aspects of management specific to SMA. The molecular genetic background of the condition and its influence on current research into potential treatment are included.
By the end of this section you will have a working knowledge of acquired and inherited neuropathies and an understanding of metabolic and degenerative conditions in which neuropathy may be present.
This section considers the aetiology, diagnosis and treatment of acquired autoimmume myasthenia and the inherited congenital myasthenic syndromes, including their molecular genetic basis. We shall take a look at the pathophysiology of transmission abnormalities at the Neuromuscular Junction (NMJ) and the mechanism of action of anticholinesterases in diagnosis and treatment.
This section will enable you to understand the multisystem involvement in Myotonic dystrophy, the impact on activities of daily living, morbidity and survival. To recognize the risks associated with sedation, anaesthetic and surgery to patients with Myotonic dystrophy. To understand the inheritance, clinical features, course and prognostic outcome of Congenital Myotonic Dystrophy, leading to the ability to counsel families in this regard.
By the end of this section you will have an understanding of key aspects of metabolic myopathies in children
This section will enable you to understand the multiple aetiologies of floppy infants, to develop a clinical approach in assessment and diagnosis of the floppy infant and to understand the impact of advances in molecular genetics and evolution of diagnostic algorithms over time.
This section will highlight the role of physiotherapy, and the use of orthoses, in promotion of function, in the paediatric neuromuscular disorders. This section will also emphasize the role orthotics in the management of children with neuromuscular disorders.
This section will enable you to learn the generic and disease specific respiratory complications and their impact in neuromuscular disorders.
This section will also enable you to plan appropriate follow up, investigations and intervention, to reduce respiratory associated morbidity and mortality in patients with neuromuscular disease.
To become aware of the disease specific cardiac complications in neuromuscular disorders. To plan appropriate follow up, investigations and intervention, to reduce cardiac associated morbidity and mortality in patients with neuromuscular disease.
To understand that awareness, diagnosis, individual management of feeding and swallowing and nutritional difficulties in neuromuscular disorders is an essential component of each child’s individual management to maintain health and quality of life.
The course is accessed via a dedicated website. On acceptance of your application, we will provide you with a username and password to access the website.
Each Unit is split into smaller Sections (see Course Content for details). For each section, you will download a zip file containing an Activity document and reference papers.
The Activity document leads you through each section, providing work-based activities for you to complete. You may choose to work through the Activity document on your computer or print off the materials so that you can work on a hard copy.
Each activity is designed to lead you through the topic. Sometimes an activity will ask you to read a paper and then answer questions. Other times it will ask you to consider a case. A Commentary follows each activity, to check your learning. For most units there are also a number of lectures to watch.
There is no start or end date to complete each unit. We would hope that you will work through it at a rate that is right for you, maintaining a balance between momentum and enjoyment.
As you complete the Activity document for each section, send it by email to the BPNA. Once it has been reviewed, we will provide a certificate of Continuing Professional Development. You can download this from your BPNA personal account.
WHO IS THIS FOR?
Unit 00 Introduction to Paediatric Neurology
Unit 05 Neuromuscular Disorders
Unit 08 Inflammation & Infection of the CNS
Unit 09 Metabolic, nutritional & systemic disease
Unit 11 Neuro-oncology
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