NMJ & Muscle Disease Flashcards
Duchenne muscular dystrophy (DMD)
Common human disease, occurs in dogs/cats - Goldens
X-linked muscular dystrophy (females are carriers)
- loss of dystrophin
Onset for DMD
Onset 8-12 wks of age
Stiffness & bunny hopping
Diagnosing DMD
Clinical signs
CK markedly elevated
Possible genetic testing
Special stains - will show decreased dystrophin on muscle biopsy
Treatment for DMD
L-carnitine & CoQ10
Gene therapy for prevention?
Long term prognosis is very poor
Centronuclear myopathy
Reported in border collies, labs & Great Danes
Clinical signs vary but are consistent with LMN disease
Clinical signs of CNM
Short strided gait, stiff gait, exercise intolerance
Diagnosing and treatment of CNM
Electro diagnosis
Muscle biopsy
Genetic testing
CoQ10
L-carnitine
Congenital myotonia
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction
Clinical signs for congenital myotonia
Hypertrophied muscle, stiff gait, difficulty rising, usually see improvement with exercise
Diagnosing congenital myotonia
Compatible clinical signs
CK - normal to mild elevation
Genetic testing - CLCN1 mutation
EMG - electro testing for myotonic discharges (classic)
Treating & prognosis for congenital myotonia
Mexiletine, procainamide
Not usually progressive but can affect quality of lifed
Steroid myopathy
Usually from chronic corticosteroid usage
Profound weakness & muscle atrophy
Type 2 myofibers are primarily affected
Clinical signs for diffuse motor unit disease
Paresis
Weakness
Gait abnormalities
Exercise intolerance
Reduced reflexes
Postural alterations
Dyphonia
Regurgitation
Dysphagia
Dyspnea
Junctionpathies
Degenerative
Anomalous - congenital MG
Metabolic
Nutritional
Neoplastic - paraneoplastic MG
Idiopathic
Inflammatory - myasthenia gravis
Infectious - tick paralysis, botulism
Trauma
Toxin
Vascular
Myasthenia gravis
Myasthenia gravis is a chronic autoimmune, neuromuscular disease that causes weakness in the skeletal muscles (the muscles that connect to your bones and contract to allow body movement in the arms and legs, and allow for breathing)