minarcik robbins 2013_ch27-nerve_musc
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MYOPATHIESMYOPATHIES
NEUROPATHIESNEUROPATHIES
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NEUROPATHIES, MYOPATHIES
• NEUROPATHIES (7)– Inflammatory– Infectious– Hereditary (HMSN-I)– HMSN-II, HMSN-III
– Acquired (Toxic/Metabolic)
– Traumatic– Neoplasms
• MYOPATHIES (9)
–Denervation– Dystrophies– Ion Channel– Congenital– Genetic Metabolic– Inflammatory– Toxic– NeuroMuscular Junction– Neoplasms
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GENERAL Reactions• NERVE
– DEMYELINATION (segmental)
– AXONAL DEGENERATION
– NERVE REGENERATION
– REINNERVATION
• MUSCLE FIBER– NECROSIS
– VACUOLIZATION
– REGENERATION
– ATROPHY
– HYPERTROPHY
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HYPERTROPHY, ATROPHY
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NEUROPATHIES, MYOPATHIES
• NEUROPATHIES (7)– Inflammatory– Infectious– Hereditary (HMSN-I
HMSN-II, HMSN-III)– Acquired Toxic/Metabolic– Traumatic– Neoplasms
• MYOPATHIES (9)– Denervation– Dystrophies– Ion Channel– Congenital– Genetic Metabolic– Inflammatory– Toxic– NeuroMuscular Junction– Neoplasms
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NEUROPATHY, Inflammatory
• Guillain-Barré– Preceded by “influenza”-like illness– NO actual specific etiologic agent isolated,
autoimmune disease to myelin gangliosides most likely
– Inflammation of a peripheral nerve– DEMYELINATION– “ASCENDING” paralysis
• Hands trunk• Feet trunk
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Guillain-Barré, (AIDP), Acute Inflammatory Demyelinating Polyneuropathy
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NEUROPATHY, Infectious
• Leprosy
• Diphtheria
• V/Z (Varicella-Zoster)
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N
E
U
R
O
T
O
X
I
NC. DIPHTHERIAE
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Z
O
S
T
E
RPOSTHERPETIC
NEURALGIA
ZOSTER in DRG
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NEUROPATHY, Hereditary(defective myelination)
(Hereditary Motor and Sensory Neuropathy)
• HMSN-I (Charcot-Marie-Tooth)• HMSN-II (Like CMT of the neurons)
• HMSN-III (Palpable Nerves) (aka, Dejerine-Sottas)
• …….IV, V, VI, VII
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PES CAVUM(S),
in CMT
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NEUROPATHY, Toxic/Metabolic
Symmetric, Asymmetric
Sensory, Sensorimotor
Somatic, Autonomic
Focal, Multifocal
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NEUROPATHY, Toxic/Metabolic
Diabetes MellitusDiabetes MellitusVitamin Deficiencies (many Bs, E)Heavy Metals, Pb, As, etc.Organic Compounds
CHEMOCHEMO
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DEMYELINATION
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NEUROPATHY, Traumatic
• Laceration regeneration rate = 1mm/day or 1 in/mo.
• Avulsion
• Carpal Tunnel
• Traumatic (amputation) “Neuroma”
• “Saturday Night” Palsy (radial n.)
• Morton “Neuroma”
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TRAUMATIC NEUROMA“Regenerating Axons and Glia (Schwann Cells), but with no direction”
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MORTON’S
NEUROMATraumatic Compression
F>M
Interdigital
Intermetatarsal
MEDIAL Plantar Nerve
3rd COMMON digital branch
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http://www.google.com/search?hl=en&sugexp=gsishc&xhr=t&q=morton's+neuroma&cp=14&bav=on.2,or.r_gc.r_pw.&um=1&ie=UTF-8&tbm=isch&source=og&sa=N&tab=wi&biw=1366&bih=705
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NEUROPATHY, Neoplastic
Benign: Schwannoma
Malignant: Malignant Schwannoma
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Antoni A: “Palisaded” Antoni B: NON-Palisaded
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QUIZ:•Why are Schwannomas the ONLY tumors of peripheral nerve?
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MYOPATHIESMYOPATHIES
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NEUROPATHIES, MYOPATHIES
• NEUROPATHIES (7)– Inflammatory– Infectious– Hereditary (HMSN-I)– HMSN-II, HMSN-III– Acquired Toxic/Metabolic– Traumatic– Neoplasms
• MYOPATHIES (9)– Denervation (SMA)– Dystrophies– Ion Channel– Congenital– Genetic Metabolic– Inflammatory– Toxic– NeuroMuscular
Junction– Neoplasms
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MYOPATHY, Denervation
MUSCLE FIBERS
CANNOT SURVIVE UNLESS THEY ARE INNERVATED
PERIPHERAL NERVE PATHOLOGY
ANTERIOR (ventral) HORN CELL PATHOLOGY
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SPINAL MUSCULAR ATROPHY
• Childhood diseases• Chromosome #5 that harbors the
survival motor neuron gene (SMN1)
• Anterior (ventral) Horn Cells• Often PAN-fascicular• Shoulder, hip muscles
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MYOPATHY, “Dystrophic”• Jerry’s kids, no “DYSTROPHIN”
• DUCHENNE (DMD), x-linked
• BECKER (BMD) (less common, less severe, same chromosome)
• Many others also, all of which have complex genetic patterns which have all been precisely defined
• MYOTONIA is a common feature
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NORMAL DMD
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Limb Girdle Muscular Dystrophies
Inheritance Locus Gene Clinicopathologic Features
1A
Autosomal-dominant 5q31 Myotilin Onset in adult life with slow progression of limb weakness, but sparing of facial muscles; dysarthric speech
1B
Autosomal-dominant 1q21 Lamin A/C Onset before the age of 20 years in lower limbs, progression during many years with cardiac involvement
1C
Autosomal-dominant 3p25 Caveolin-3 (M-caveolin)
Onset before the age of 20, clinically similar to type 1B
1D
Autosomal-dominant 7p Unknown Limb girdle muscle weakness, adult onset
2A
Autosomal-recessive 15q15.1-21.1 Calpain 3 Onset in late childhood to middle age; slow progression during 20–30 years
2B
Autosomal-recessive 2p13.3-q13.1 Dysferlin Mild clinical course with onset in early adulthood
2C
Autosomal-recessive 13q12 γ-Sarcoglycan Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy
2D
Autosomal-recessive 17q21 α-Sarcoglycan (adhalin)
Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy
2E
Autosomal-recessive 4q12 β-Sarcoglycan Onset in early childhood, with Duchenne-like clinical course
2F
Autosomal-recessive 5q33 δ-Sarcoglycan Early onset and severe myopathy; dystrophic myopathy on muscle biopsy
2G
Autosomal-recessive 17q11-q12 Telethonin Distal weakness with limb-girdle weakness in late childhood to adulthood; rimmed vacuoles in muscle cells
2H
Autosomal-recessive 9q31-q34.1 Tripartite motif-containing protein 32 (TRIM32)
Limb-girdle and facial weakness with onset in childhood, mild, slowly progressive course
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MYOPATHY, Ion Channel“Channelopathies”
• MYOTONIA/HYPOTONIC PARALYSIS
• FAMILIAL, (genetic) DISEASES• TRIGGERED BY:
– Exercise– Cold– Carb Intake
• Classified by K+, ↑K+, ↓K+• MALIGNANT HYPERTHERMIA
can be triggered off by anesthetic halogenated inhalation agents in some of these patients!!!
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MYOPATHY, Congenital“Floppy Babies”
• HYPOTONIC
• FAMILIAL, (genetic) DISEASES
• MANY TYPES, in most of which the precise genetic defects have been identified
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MYOPATHY, Metabolic(genetic also)
• LIPID– Mitoch. Enz. Def. LIPID ACCUMULATION
• MITOCHONDRIAL– “PARKING LOT” mitochondria
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PARKING
LOT
MITOCH.
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MYOPATHY, Inflammatory
• DERMATOMYOSITIS
• POLYMYOSITIS
• INCLUSION BODY MYOSITIS
• ALL HAVE UNCLEAR ETIOLOGIES
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DERMATOMYOSITIS(often peri-vascular)
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POLYMYOSITIS, usually endo-myseal
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INCLUSION BODY MYOSITIS (IBM) , “rimmed” vacuoles
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MYOPATHY, Toxic
• THYROTOXICOSIS
• ETHANOL
• DRUGS (steroids, chloroquine)
• DRUGS (MANY MANY others)
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MYOPATHY, NeuroMuscular Junction
• Myasthenia Gravis– Associated with thymomas– Thymectomies often useful Rx:– AUTOIMMUNE DISEASE, CLEARLY– Ab’s to ANTI-CHOLINESTERASE RECEPTORS– Anticholinesterase test is very diagnostic (edrophonium)– YOUNG WOMEN WITH EYE MUSCLE SYMPTOMS:
• Ptosis • Diplopia• General Weakness
• Lambert-Eaton Syndrome (paraneoplastic), 60% have malignancies, auto-antibodies against NMJx
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MYOPATHY, Neoplastic
•Benign–Rhabdomyoma
•Malignant–Rhabdomyosarcoma