Toxic and Metabolic Neuropathies
tips and tricks toxic neuropathies. Most toxic neuropathies occur together with exposure to the toxin. The duration and level of toxin exposure usually correspond to neuropathy severity. The most common…
Myotonic Dystrophies
DMPK, CTG expansionChromosome 3 Zinc finger protein 9, CCTGInheritanceAutosomal dominantAutosomal dominantAge of onsetInfancy – adulthood, varies with severity and number of repeatsChildhood –adulthood, varies with severity and number of repeatsTypical…
Lambert–Eaton Myasthenic Syndrome
science revisited neuromuscular transmission The steps involved in neuromuscular transmission are: Motor nerve depolarization produces action potentials Sodium enters the nerve through voltage-gated sodium channels Repolarization of motor nerves, stopping…
Congenital Myopathies
caution! Patients with mutations in SEPN1 and TPM3 may develop nocturnal hypoventilation while fully ambulant and monitoring of respiratory function from early ages is advised in proven or suspected cases….
Distal Myopathies
tips and tricks Distal myopathies are frequently confused with inherited sensorimotor neuropathies. Consider a distal myopathy when: there is insidious onset of distal weakness without sensory symptoms the extensor digitorum…
Congenital Myasthenic Syndromes
The slow-channel CMSs and sodium-channel myasthenia are transmitted by dominant inheritance. All other CMSs identified to date are transmitted by recessive inheritance. Phenotypic Features and Pathological Mechanisms in the Different…
Neuromuscular Diseases: Approach to Clinical Diagnosis
tips and tricks presence of prominent respiratory involvement Think of: Acute/Subacute: Guillian–Barré syndrome myasthenia gravis Chronic: amyotrophic lateral sclerosis acid maltase deficiency Duchenne dystrophy myotonic dystrophy tips and tricks prominent…
Other Autoimmune Disorders: Systemic Lupus Erythematosus, Primary Sjögren’s Syndrome, Gluten-related Neurological Dysfunction and Paraneoplastic Neurological Syndromes
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Immune Responses in the CNS in Epilepsy
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Immune Responses to Tumours in the CNS
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