Nerve/Muscle Disorder Pathology Flashcards
What four things contribute to ALS
Abnormal protein aggregates
Excitotoxicity
ROS and MT dysfunction
Inflammation
Clinical presentation of neuromuscular disease
weakness, sensory loss, pain
Neurogenic disease
peripheral nerve cell bodies, peripheral nerves, neuromuscular junction
Autoimmune neuromuscular junction disease
Myasthenia gravis
Motor unit includes…
Cell body, axon, every muscle fiber innervated by axon
Myopathic diseases
Muscular dystrophy
Inflammatory myositis
Metabolic/toxic storage diseases
Congenital myopathy
Wallerian degeneration (i.e. anterograde)
trauma + vascular disease cause axon distal to injury to degenerate
Distal axonopathy
systemic metabolic disease, toxin or genetic disease causes distal axon to die
Peripheral nerve biopsy can be helpful for…
mononeuropathy multiplex
mononeuropathy multiplex biopsy findings
Vasculitis with fibrinoid necrosis, hemorrhage
Genetic neuromuscular junction disorder
congenital myasthenic syndromes
X-linked recessive muscle disorders
Duchenne-Becker
Emery-Dreifuss
Autosomal Dominant
Limb-girdle
Myotonic dystrophy
Autosomal Recessive
Limb-girdle
Most congenital
Muscular Dystrophy proteins compose
ECM proteins Sarcolemma-associated Sarcomere-associated Glycosyltransferases for a-dystroglycan Nuclear-envelope associated
Metabolic myopathic disorders
Rhabdomyolysis
Glycogen storage disease
Pompe disease
Mitochondrial myopathy
Microvascular disorder with perifascicular atrophy
Dermatomyositis
fibrosis and fatty replacement, rimmed vacuoles
inclusion body myositis
Motor neuron disease (ALS and SMA) is a…
Neurogenic disease
DMD/BMD are _______ diseases
Myopathic
In a peripheral neuropathy, the pathology is in the
Axon
Myopathic neuromuscular diseases
NMJ
Muscle
Distal symmetrical polyneuropathy appears as
stocking-glove distribution
Myasthenia gravis is a ____genic neuromuscular disease that affects the _______________
Neurogenic
NMJ
Neurogenic neuromuscular diseases
Peripheral nerve cell bodies
Peripheral nerves
NMJ
Hereditary peripheral myelin disorders
Charcot-Marie-Tooth diseases (many genes)
Two neuropathies that can be identified with biopsy
Vasculitis, Amyloidosis
Electron microscopy shows great variance in myelination around axons, layers of Schwann cell processes
Charcot-Marie-Tooth
Hereditary myelin disorder in the CNS myelin protein gene
Leukodystrophies
Loss of junctional folds is seen in
Congenital myasthenic syndromes
Internally placed nuclei are characteristic of ______ disease
myopathic
Path findings in NEUROGENIC disease
Atrophy: angulated fibers, fiber type groups, pyknotic nuclear clusters
Fiber type regrouping
Nemaline rods are shown as
Little dots/aggregates
Path findings in MYOPATHIC disease
atrophy/hypertrophy (rounded fibers, scattered) internally placed nuclei inflammation fiber necrosis regeneration endomysial fibrosis
In motor neuron disease, the cell body
dies
Fiber type regrouping is characteristic of ______ disease
Neurogenic
Type 1 muscle fibers
One mighty slow fat red ox
sustained, weight bearing
slow myosin heavy chain
abundant lipids, scant gluc
NADH darkInflammation occurs in _______ disease
Myopathic
Angulated fibers are characteristic of _______ disease
Neurogenic
Ragged red fibers are associated with
Mitochondrial myopathies
