PART 2 CN
• V
• VII
• V
• XII
Horner Syndrome
1 Neuromuscular Disease Clinical presentations, signs and symptoms
Lecture presented at the EAN Teaching Course in Burkinje Faso, Nov. 2017 Wolfgang Grisold (1) Anna Grisold (2) Stefan Meng (3)
(1) Ludwig Boltzmann Institute for Experimental und Clinical Traumatology
Donaueschingenstraße 13 A-1200 Vienna, Austria
(2) Department of Neurology, Allgemeines Krankenhaus, University of Vienna , Austria (3) Department of anatomy, University of Vienna, Austria
2 COI
• All authors: No COI to report.
• The study was not funded.
3 Support:
• EMG - Reindorfgasse, Vienna
• Neuroscience Winter meeting society, Vienna Austria
• Widdicombe Enterprises
• Ludwig Boltzmann Institute for Experimental und Clinical Traumatology, Vienna, Austria
4 Is it neuromuscular ?
Combinations ?
Case history
new concepts Clinical presentation
examples
5 Neuromuscular System (A common construct) • (Extracranial parts of the Cranial nerves)
• Nerve Roots
• Plexus
• Peripheral nerves
• Muscle
• Autonomic system
6 NCV/EMG/US Upper extremities Neuropathies ? Neuropathies: How often ?
Median (CTS) 103,00 Ulnar 25,00 Radial 2,50 Cut. Femoral 10,00
Disc (> 50 yrs) Cervical (aged) 600,00 Lumbar (aged) 1079,00
PNP DM II: 6400
Pro 100 000 Patient years Source: Callaghan,7 Ann Arbor 2016, USA Combinations of neuromuscular and central nervous system. Examples:
• MND/ALS
• Some hereditary neuropathies
• etc.
8 Case history
Family history (tree)
Diseases, medications,
Exposition, trauma
Onset, duration, acute, chronic progressive , fluctuating, episodic
Symptoms: motor, sensory, autonomic movement, composite
Acquired/genetic
Before examining the patient- create hypothesis
9 Time
Acquired
episo Acute
Hereditary
10 Symptoms and signs
Motor Sensory Composite function
Autonomic Neuropathic Pain Distribution
111111 Symptoms and signs
Skin Skeletal system
121212 Distribution of weakness, atrophy
Strength (BMRC)
Motor Time: Fluctuating, episodic
Muscle volume
Atrophy
Hypertrophy
Phenotype distribution: myopathy, polio, club foot
131313 Winging
14 15 Proximal weakness
16 Carcinomatose Neuromyopathy EMG 17 Percussion myotonia
18 Muscle hypertrophy
Examples
Pseudohypertrophy Endocrinopathy Focal muscle hypertrophy Overuse infections Amyloid
19 Steroid myopathy
20 Movement
• Myokymia
• Rippling
• „Stiffness“, myotonia
• Percussion myotonia
• Cramps Tongue Ultrasound
21 Quality
Sensory assessment
Instruments Sensory
Type of fiber lesion
Tinel Hofmann sign
Sclerotoma,
myotoma,
„neurotoma“
22 Instruments
23 B
A: superficial peroneal nerve
B. Infrapatellar nerve
Tinel Hofmann: red circle
A 24 Foot
25 Simple (but complex) functions:
Opening and closing buttons Test Composite function ! Recognition of objects Balance: Romberg
Stance on one leg
Can you put on your trousers standing freely one leg ?
Muscle:
„Hands up“
Standing up from squat
Push ups
26 Dry mouth, dry eyes ?
Ask for Voiding
Autonomic Sexual dysfunction dysfunction Orthostasis
Gastrointestinal
27 Pain characteristics
(stabbing, shooting, electric) Neuropathic Pain Distribution- cave Allodynia
Sensory, motor involvement
Elicited by : eg Tinel Hofmann
28 Neuropathic Pain conditions
• Acute episodic
• Painful neuropathy
• Small fiber
• Trauma causalgia
• Localized
• Surgery
• Phantom- pain
• PRURITUS
29 30 Painful neuropathies
• Alcohol
• Metals
• Drugs (eg. CIPN)
• Immune-mediated, Vasculitis
• Hereditary ( eg Fabry)
31 Skin
Haemangioma 32 Waterhouse F. syndrome Thickening of nerves
Greater auricular nerve (intraoperative) 33 Radiofibrosis syndrome
34 Hyperkeratosis in denervation
35 Skin
Lymphoma
36 Hand Foot Syndrome
37 Skeletal system
38 Focal dysfunction/Weakness
39 Distribution: Neuropathies and Radiculopathies
40 Further Ancilliary Tests
• NCV/EMG
• Imaging: ultrasound, MRI, CT
• Autonomic test
• Biopsy
• Laboratory
• Genetics
41 Nerve Ultrasound
42 Neuromuscular lesions
• CN
• Plexus lesions
• Mononeuropathies
• Polyneuropathies
• Neuromuscular transmission
• Muscle
43 Facial nerve: 3 different problems
VII
44 Cases of tongue involvement
45 The Plexus
• Cervical
• Brachial
• Lumbar
• Sacral
• (Coccygeal)
46 Local tumor affecting Phrenic nerve palsy the cervical plexus
47 48 Lumbar, sacral - Anatomy
49 Sacral Plexus Vascular
50 Mononeuropathy
51 CTS
52 Acute Swelling and median nerve dysesthesia
53 Acute Swelling and median nerve dysesthesia. Ultrasound : synovial cyst, yellow: median nerve.
54 Ulnar nerve lesion Median nerve: Thenar atrophy
55 SNUS
56 Chemotherapy paravasate, damage of cutaneous nerve
57 Radial nerve palsy after fracture
58 Ultrasound shows preserved continuity of the radial nerve 59 Diagnosis of nerve tumors
60 Hip operations
• Hip operations
• Femoral nerve
• Sciatic nerve (traction)
• Cutaneous nerve
61 From: Sunderland Arrow points towards screw from the acetabulum in contact with the sciatic nerve
62 Nerve reconstruction
• Neuroplasticity:
• Brachial plexus surgery:
• Phrenic nerve and
• intercostal
• Contralateral C 7 transfer
• Hand transplant
63 M. Tibilialis posterior transfer
64 Polyneuropathy
• Distribution
• Statistics
• symmetric
• Asymmetric
65 Frequency Diabetes Toxic neuropathies
HIV Immune mediated Infection
6666 Painful Hereditary Small fiber neuropathies
Neoplastic Immune mediated Paraneoplastic
676767 Frequency of neuropathy
• Most frequent: Diabetes, cryptogenic and toxic.
• Inflammatory, genetic, etc less frequent.
68 Diabetes
• Symmetric
• Distal symmetric neuropathy
• Diabetic autonomic neuropathy
• „Pseudotabic“ type
• CIDP like
69 Diabetes
• Asymmetric forms
• Multiplex
• Truncal neuropathy
• Diabetic amyotrophy
70 Diabetes
• Prediabetic neuropathy
• „Insulin neuritis“
71 Diabetes
• CN: III, (VII)
• Mononeuropathy: CTS
• Diabetic muscle infarct
• Diabetic cachexia
72 Chemotherapy induced neuropathy
73 Chemotherapy induced neuropathy
74 75 76 Toxic neuropathies
• Alcohol
• Industrial agents
• Historical:
• Spanish toxic oil syndrome
• U boat oil TCE neuropathy
77 Infection
• HIV
• Leprosy
• CMV
• Herpes
• VII
• Mononeuropathy
• Motor involvement
• Myelopathy
78 HIV and the PNS
ALS-variant syndrome Toxic Drug treatment Autonomic
CIDP Cytomegalovirus DILS Drug-induced Guillain-Barré Mononeuritis multiplex Neuromyotonia Sensory motor polyneuropathy VII nerve palsy Mononeuropathy Brachial plexopathy
79 Hereditary neuropathies
• CMT
• Fabry
• Amyloid
• Porphyria
80 CMT detected in an asymptomatic patient. Left: foot deformity.
81 NMT
MusK MG (AchR pos) „Seronegative“ LRP4
Other NMT LEMS Neuromyotonia disorders
828282 Ocular myasthenia
83 • Triple furrow tongue
84 Lambert Eaton myasthenic syndrome
• Autoimmune presynaptic disorder
• 50 % paraneoplastic (SCLC)
• Electrophysiology: Increment
• Clinical: proximal weakness, facilitation of reflexes
85 Neuromyotonia
86 Muscle
• Distribution
• Onset/Course
• Acquired/genetic
87 Muscle
Hereditary Inflammatory Endocrine
Metabolic Deposition Toxic
888888 Muscle
Infection Systemic disorders Myotonia
Sarcopenia Critical illness Cachexia
898989 Hyperlordosis Shoulder girdle weakness Shortened achilles tendons
90 A quick test for myopathic weakness
91 Mitochondrial myopathy Distribution and CN
• Face • FSH, OPD; Myotonia, mitochondrial myopathy
NMT (MG),OPD, • Optomotor
• Bulbar OPD, DM, IBM, Myotonia
• Proximal >> distal
92 93 Myositis
• DM (25 %) (Anti-TiF1γ )
• PM (10 %)
• Necrotizing myopathy (NAM)
94 Volar atrophy
IBM 95 Axial myopathy
96 Toxic myopathies, Hyper CK emir
• Toxic myopathies: see: http://neuromuscular.wustl.edu
• Hyper CK emia: EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemiaEuropean Journal of Neurology 2010, 17: 767–773 (download)
97 Motor Neurone Disease
• MND
• ALS
• Variations
• Genetic forms
• Kennedy syndrom
98 • ALS
• Variants
• Genetic types
99 Flail arm syndrome
Atrophy of shoulder girdle (flail arm) Thigh and leg muscles preserved
100 Sources:
101 Join the World Brain Day 2018 !
Check the WFN website for information. 102 103 103 104