Neurological and muscular disorders

This chapter describes the anaesthetic management of the patient with those neurological or muscular disorders which are relevant to anaesthetic practice, including malignant hyperthermia (MH). Other topics covered include epilepsy, cerebrovascular disease; Parkinson’s disease; spinal cord lesions; myasthenia gravis; multiple sclerosis; Guillain-Barré syndrome; motor neuron disease; dystrophia myotonica and the muscular dystrophies. For each topic, pre-operative investigation and optimisation, treatment, and anaesthetic management are described.

Thymoma-associated myasthenia gravis coexisting with myotonic dystrophy: a case report

Background Myotonic dystrophy (dystrophia myotonica [DM]) is an autosomal-dominant inheritance, and myasthenia gravis (MG) is an autoimmune disease characterized by weakness of skeletal muscles. Cases of both DM and MG are extremely rare and distinguishing DM and MG symptoms is challenging. Case presentation We herein report a 49-year-old woman presenting with subacute dyspnea and muscle weakness. She had previously been diagnosed with DM 24 years earlier. Computed tomography (CT) revealed an anterior mediastinal 32-mm solid mass that was suspected of being thymoma. The clinical features and neurological examination findings confirmed the diagnosis of thymoma-associated MG coexisting with DM. Intensive treatment for MG, including surgery, resulted in an improvement in some of her neurological symptoms. Conclusions The symptoms of DM usually progress slowly, so the sudden exacerbation of symptoms indicates the involvement of other factors. It is important to be aware of these associations, as an early diagnosis with proper treatment will result in a better outcome.

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart

Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by symptoms in muscle, heart and central nervous system, among others, it is one of the most variable diseases known. A major pathogenic event in DM is the sequestration of muscleblind-like proteins by CUG or CCUG repeat-containing RNAs transcribed from expanded repeats, and differences in the extent of MBNL sequestration dependent on repeat length and expression level may account for some portion of the variability. However, many other cellular pathways are reported to be perturbed in DM, and the severity of specific disease symptoms varies among individuals. To help understand this variability and facilitate research into DM, we generated 120 RNASeq transcriptomes from skeletal and heart muscle derived from healthy and DM1 biopsies and autopsies. A limited number of DM2 and Duchenne muscular dystrophy samples were also sequenced. We analyzed splicing and gene expression, identified tissue-specific changes in RNA processing and uncovered transcriptome changes strongly correlating with muscle strength. We created a web resource at http://DMseq.org that hosts raw and processed transcriptome data and provides a lightweight, responsive interface that enables browsing of processed data across the genome.

Neurological and muscular disorders

This chapter describes the anaesthetic management of the patient with those neurological or muscular disorders which are relevant to anaesthetic practice, including malignant hyperthermia. Other topics covered include epilepsy, cerebrovascular disease, Parkinson’s disease, spinal cord lesions, myasthenia gravis, multiple sclerosis, Guillain-Barré syndrome, motor neuron disease, dystrophia myotonica, and the muscular dystrophies. For each topic, preoperative investigation and optimization, treatment, and anaesthetic management are described. For malignant hyperthermia, trigger-free anaesthetic techniques are described, as well as the management of an acute episode.