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What are two main types of neuromuscular disorders?
- primary muscle disorder
- neuromuscular junction disorder
What are two main types of primary muscle disorders?
- inherited muscular dystrophies
- inflammatory diseases
What are different types of inherited muscular dystrophies?
- duchene muscular dystrophy
- myotonic dystrophy
- fascio-scapular humeral dystrophy
- limb girdle dystrophy
How do you get Duchene Muscular Dystrophy?
- sex linked X chromosome
- mother is a carrier, so mostly in males
- if mother is carrier, 25% chance kid will get it
What is the progression of duchene muscular dystrophy?
- symptoms by 5 years
- disabled by adolescence
- death by 3rd decade (respiratory infection)
What are some symptoms of duchene muscular dystrophy?
- weak quads, sitting on Y ligament, increased lordosis, knee hyperextension
- Gowers sign- use hands to straigten knees
- pseudohypertrophy- calves appear muscular but fatty
What happens to the muscles cells in duchene muscular dystrophy?
- different sizes but surrounded by debri
- will eventually deteriorate
What is the EMG pattern of a dystrophic muscle
- few action potentials
- signals are going to muscles but muscles are dying so signals keep getting weaker
What is myotonic dystrophy (basic)?
- can't relax muscles
- (shake hands for too long, because can't relax them to release)
How do you get myotonic dystrophy?
- chomosome 19
- dominant trait
What are signs and symptoms of myotonic dystrophy and when do they appear?
- appear in 3rd decade but slow progression
- frontal balding
- hachet faces- atrophy of temporalis muscle
- ptosis and drooping mouth- weak facial muscles
- SCM wasting
What are other problems that come along with myotonic dystrophy?
- heart arrhythmia
- childbirth complications
- increase need for sleep
- anesthesia complications
What are symptoms of Fascio-scauplar humeral dystrophy and when do they occur?
- progressive weakening of face, scapula, arms
- onset in 2nd decade
How do you get Fascio-scapular humeral dystrophy and what are the chances?
- inherited, chromosome 4 dominant
- 1/20,000 people affected
What are characteristics of limb girdle dystrophy?
- austomal dominant and recessive
- onset 10-30 yo
- affects hip and shoulders
- severity varies
What is an example of an inflammatory disease?
What is polymositis and what are some of it's symptoms?
- autoimmune, inflamed muscles
- painful weakness, malaise, fever
- progressive for 2 years
How do you treat polymositis?
- if not treated could be fatal
What is an example of neuromuscular juntion disorder?
What is myasthenia gravis and its symptoms?
- autoimmune disorder causing bad muscle weakness
- increasing weakness in extremities with activity
- swallowing problems
What is the treatment for myasthenia gravis?
- no known cure, just have to control it
- anticholinesterase drugs