Muscle & Nerve Diseases Flashcards
How can muscle diseases present?
Weakness of skeletal muscle Shortness of breath Cardiomyopathy Cramp, pain Myoglobinuria Wasting/hypertrophy
Give five of the major muscular dystrophies
Duchenne's MD Becker's MD Facioscapulohumeral MD Myotonic dystrophy Limb-Girdle MD
What type of genetic linkage applies to Duchenne’s?
X linked
What are the Ix for Duchenne’s?
Creatine kinase
Genetic testing
Muscle biopsy
What is a common heart condition associated with Becker’s MD?
Cardiomyopathy
What type of genetic disorder causes myotonic dystrophy?
Autosomal dominant trinucleotide repeat disorders
What is a channelopathy?
A disorder of Ca, Na or Cl
What are three main forms of metabolic muscle disease?
Disorders of carbohydrate metabolism
Disorders of lipid metabolism
Mitochondrial myopathies/cytopathies
What are the two main types of inflammatory muscle disease?
Polymyositis
Dermatomyositis
What skin manifestation is indicative of dermatomyositis?
A characteristic rash
What are the Ix for inflammatory muscle disease?
Creatine Kinase - increased is indicative
EMG
Muscle Biopsy
What is the treatment for inflammatory muscle disease?
Immunosupression
What is the clinical presentation of myasthenia gravis?
Fatiguable weakness - Limbs Eyelids Muscles of mastication Talking SOB Diplopia
What is the Ix for myasthenia gravis?
ACh receptor antibody test
Anti muscle specific kinase (MuSK) antibody test
EMG
Tension test
(CT chest)
What is the symptomatic treatment for Myasthenia gravis?
Acetylcholinesterase inhibitor