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Lecture 16

Neuromuscular Pathology

Clinical features of myopathy (1)Pure motor involvement (weakness) (2)Proximal weakness (3)Absence of autonomic dysfunction (4)Muscle atrophy (5)Pseudohypertrophy (6)Myotonia (7)Contractures
Features of neuropathy (1)Mixed motor and sensory involvement (2)distal weakness (3)may have some autonomic dysfunction
Gene mutated in Duchenne's and Becker muscular dystrophy DMD gene which encodes a protein called dystrophin is mutated. Most mutations are deletions or duplications of one or more exons in the dystrophin gene, often resulting in a frameshift mutation.
What is the inheritance pattern of Duchenne's and Becker muscular dystrophy? X-linked inheritance. DMD gene is found on the X chromosome.
A myopathy that typically manifests by 5 years of age with weakness and evetually wheelchair dependence by age of 10-12. Death occurs due to respriatory insufficiency and cardiac failure by the early 20s. Duchenne's muscular dystrophy
Myopathy associated with mutation of sarcoglycans Limb girdle dystrophies
Myopathy associated with mutation of merosin (laminin-2) Congential muscular dystrophy
Components of dystrophin complex (1)Dystrophin (2)4 different sarcoglycans (3)laminin-2
Most common adult-onset muscular dystrophy Myotonic dystrophy
Inheritance pattern of myotonic dystrophy Autosomal dominant
Genetic abnormality causing myotonic dystrophy Trinucleotide repeat expansion (CTS) in 3'UTR of myotonin kinase. (<30 repeats is normal, >50 repeats results in disease)
An inflammatory myopathy with skin manifestations Dermatomyositis
Pathogenesis of dermatomyositis Immune complexes deposit in capillaries of muscle and skin.These damaged capillaries cause ischemic damage, especially at periphery.
A chronic inflammatory myopathy characterized by proximal muscle weakness and a higher incidence in females. This condition is responsive to steroid treatment. Polymyositis
A chronic inflammatory myositis with a higher incidence in males with typical distal muscle involvement. Histologic features include rimmed vacuoles and/or inclusions. This condition is not responsive to steroid treatments. Inclusion body myositis
Enzyme deficient in Mcardle's disease Phosphorylase
Inheritence pattern of Mcardle's disease Recessive inheritance
Clinical features of Mcardle's disease (1)Onset age <15 (2)male predominance (3)exercise intolerance (especially brief and intense (4)muscle cramping (5)muscle swelling
Enzyme deficient in Pompe's disease Acid maltase deficiency
Inheritance pattern of Pompe's disease Recessive inheritance
What are the 3 types of Pompe's disease (1)Infantile onset (2)Childhood onset (3)Adult onset
What variant of Pompe's disease with involvement of liver and heart, causing cardiomegaly and congestive heart failure. Death usually occur by 1 year of age. Infantile onset Pompe's disease
What variant of Pompe's disease is characterized by proximal muscle weakness with involvement of mainly the large muscles. Glycogen accumulation is mainly limited to the muscle. Childhood onset Pompe's disease
Myopathy due to genetic defects in enzymes for fatty acid transport into mitochondria or fatty acid oxidation Lipid storage myopathies
Myopathy present in young adulthood with opthalmoplegia plus pigmentary degeneration of the retina Kearns-Sayre syndrome
(T or F)Mutations in only mitochondrial genes cause mitochondrial myopathy. False. Mutations in both nuclear and miotchondrial genes cause mitochondrial myopathies.
Inheritance pattern of mitochondrial myopathies Maternal inheritance, since the oocyte contrbiutes the mitochondria to the embryo
An autoimmune disease with antibodies against acetylcholine receptors. Myasthenia gravis
An autoimmune disease with anti-presynaptic calcium channel antibodies. The autoantibodies are usually a paraneoplastic syndrome. Eaton-Lambert Syndrome
Symptoms of peripheral neuropathies (1)Weakness (2)Sensory loss (3)Dysesthesias
Signs of peripheral neuropathies (1)muscle atrophy (2)lower motor neuron signs (3)loss of tendon reflexes
Wallerian degeneration Peripheral nerve reaction to injury characterized by acute degeneration of an axon and its myelin sheath distal to the site of injury.
Regnerating clusters Evidence of peripheral nerve axonal damage characterized by several adjacent sprouting axons myelinated by a single Schwann cell, different than normal 1:1 relationship of Schwann cell to axon.
(T or F) Peripheral nerves can regenerate if the scaffolding of the nerve is intact. True.
Onion bulb formation Response of Schwann cells to any chronic demyelinating process, with repeated rounds of demyelination/remyelination.
Treatment for Guillain-Barre Syndrome Supportive therapy and plasma exchange or IV IgG
An acute onset neuropathy that may precede with Campylobacter jejuni infection and may result in respiratory failure. Guillain-Barre syndrome
Histologic features of chronic inflammatory demyelinating polyneuropathy Lymphocytic and macrophage infiltrates in early phases and onion bulbs in the end-stage of the disease
What is the morphologic features of diabetic neuropathy (1)Axonal loss of motor and sensory nerves (2)Axonal regeneration (3)Thickened capillary walls (4)Hyalinization of capillary walls
Most common form of diabetic neuropathy Diatal, sensory polyneuropathy in a glove and stocking pattern
What type of neuromuscular is characterized by decreased nerve conduction velocities and large compound muscle action potentials on nerve conduction studies? Neurogenic (nerve or spinal) disorder
What type of neuromuscular disorder is characterized by high spontaneous motor unit activity on EMG? Inflammatory myopathy
Neuropathy characterized by asthma and progressive weakness Churg-Strauss Vasculitis
Function of connexin 32 Forms gap junctions between cells of PNS myelin
What neuropathy is caused by a point mutation in connexin 32? Charcot-Marie Tooth Neuropathy
What is the inheritance pattern of Charcot-Marie Tooth Neuropathy X-linked dominant inheritance
What neuropathy is caused by gene duplication of PMP-22? Charcot-Marie Tooth Neuropathy 1A
What neuropathy is caused by gene deletion of PMP-22? Hereditary Neuropathy with Pressure Palsies
Hereditary neuropathy characterized by nerve paresis following compression or mild trauma. Hereditary Neuropathy with Pressure Palsies
What is the inheritance pattern of Hereditary Neuropathy with Pressure Palsies? Autosomal dominant
Created by: UVAPATH2



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