Neuropathy and Myopathy

Question 1

Riley Day Syndrome

Answer 1

Inherited neuropathy, Familial Dysautonomia, mutations in IKBKAP gene on chromosome 9

cyclic vomiting, hyperhidrosis, orthostatic hypotension
no cervical ganglion or lateral horns

Question 2

Autonomic symptoms

Answer 2

Riley Day
Fabry
Amyloid Neuropathy
Shy Dragger
Lambert Eaton 
Tetraplegia C4-5
Acute Autonomic paralysis (ACTH antibody)

Question 3

Ondines Curse

Answer 3

loss of autonomic breathing in sleep
need to stay awake

Medullar pathology, Listeria, Leigh

Question 4

Distal Myopathy

Answer 4

Miyoshi - Dysferlin (like LGMD 2B) AR
Nonaka - Vacuoles - AR
Welander Distal dystrophy
Desmin Myopathy - Desmin

Question 5

Congenital MD

Answer 5

Merosin Deficiency

Fukutin with IQ def (also as LGMD2I prox

Question 6

LGMD 1A

Answer 6

Myotilin
Distal
Vocal cord
Pharynx

Question 7

LGMD 1B

Answer 7

Lamin

contractures and heart

Question 8

LGMD 1C

Answer 8

Caveolin

Question 9

LGMD 2A

Answer 9

Calpain
prox dist
CPK
contractures
AD

Question 10

LGMD 2B

Answer 10

Dysferlin like Miyoshi but prox

Question 11

LGMD 2C-F

Answer 11

Sarcoglycan

Becker like with Hypertrophy and heart

Question 12

Myotonic Dystrophy

Answer 12

CTG repeat DM1
Arrhythmia
distal 
Chr 19
DMPK Gene
Ptosis non ocular
Cataract 
Testicles
balding

Question 13

PROMM

Answer 13

DM2

CCTG repeat prox weakness

Question 14

Fascioscapular

Answer 14

shorter than the WT
Telomer 4q
D4Z4
prox
facial scapula DELTOID
ant tibial 
hearing

Question 15

Oculopharyngeal

Answer 15

GCG (expension from 10 normally to 11-17
AD
Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles is the initial clinical finding.. Dysphagia (difficulty swallowing) and proximal limb weakness

Question 16

Primary Erythromelalgia

Answer 16

Red Hands, Nav1.7 mutation hypersensitive

Question 17

SCN9A mutation

Answer 17

painlessness

Question 18

Familial Amyloid PN

Answer 18

AD
Transthyretin - autonomous, GI, Heart, lancinating pains
ApoA1 - early renal involvement
Gelsolin - finish type - corneal clouding and cranial nerves, baggy skin

Question 19

Painful Neuropathy

Answer 19

Toxic: Alcohol, Thallium, Arsen
Immune:GBS, IgM, CASPR2, Sjoegren, Anti-Hu, Cryoglobulin, HIV, Vasculitis
Hereditary: Fabry, GM2, SCN9A, Amyloidosis, Porphyria, Eryhthromelalgia
Metabolic: DM, Pellagra, beriberi,
Polio

Question 20

Tangiers Disease

Answer 20

Familial alpha-lipoprotein deficiency
ABCA1 transporter CHr. 9
Cholesterol deposits
Yellow tonsils, corneal cloudin, splenomegalie
pain and temp loss polyneuropathy
face arm upper trunk syringomyalia like

Question 21

GBS

Answer 21

0.4-1.7 per 100000
C jejuni 30%
more females than males
5% respiratory failure
50% pain
urinary retention 15%

Question 22

AMAN

Answer 22

GBS variant
C jejuni in 67%
more in mexico Japan
Arms more than Legs
Respiratory failure uncommon
No sensory loss
GM1 GM1b GD1

Question 23

GBS Variants

Answer 23

Variants:
AMAN
AMSAN acute MOTOR SENSORY axonal neuropathy
Pharyngeal Cervical Brachial variant and opthalmoplegia
Complete ophthalmoplegia and ataxia and areflexia: Miller Fisher

Question 24

Miller Fisher

Answer 24

80% Diplopia start, Myalgia, Ataxia
external ophthalmoplegia and pupillary dysfunction 42%
Ataxia
Areflexia
 GQ1b or GT1b Antibodies

if drowsiness and Brainstem or long tracts: BICKERSTAFF

Question 25

Critical Illness Neuropathy

Answer 25

motor type neuropathy bacterial sepsis Axonal

Question 26

Acute Uremic PN

Answer 26

subacute acute like subacute GBS | demyelinating

Question 27

Acute Sensory Ganglionopathy

Answer 27

``` ataxia, areflexia, numbness, pain from face to all of the body CSF protein elevated - drugs - autoimmune - toxic ```

Question 28

Diphtheria

Answer 28

Exotoxin:: acute pharyngeal and laryngeal muscles A and B toxin: inhibits protein synthesis Neck edema, headache, Laryngitis Neuropathy 1: blurred vision: accomodation defect, nasal speech, Diaphragm very rare extraocular muscle weakness ``` NP 2: 8-12 weeks later: ascending weakness: sensorimotor NP weakness, paraesthsia, vibration sense loss, demyelinating CSF protein elevated symptomatic treatment ```

Question 29

Porphyric NP

Answer 29

``` severe rapid symetric motor PN - axonal abdo pain psychosis seizures AD CSF protein normal Treatment: GLUCOSE AND HEMATIN ```

Question 30

Porphyria Treatment

Answer 30

Glucose and Hematin

Question 31

Thallium NP

Answer 31

``` GBS like - AXONAL or acute sensory abdo pain vomiting diarrhea tingling areflexia, acral pain cranial nerves high CSF rotein Rapid Alopecia Treatment: KCL ```

Question 32

Arsenic

Answer 32

Garlic Smell Neuropathy vomiting GI Tachycardia, 10-20 delayed neuropathy sensory than motor large fibres, axonal CHELATION Hyperkeratosis skin changes MEES LINES

Question 33

Lead Neuropathy

Answer 33

``` Axonal degenration radial nerve motor somtimes with sensory anemia basophillic stippling colickly abdominal pain EDTA ```

Question 34

Polyneuropathy Drug induced | 1) Anti neoplastic

Answer 34

Cisplatin carboplatin: sensory paclitaxel: sensory - axonopathy vincritine thalidomide

Question 35

Polyneuropathy Drug induced | 2) Antibiotics

Answer 35

``` Isoniazid symetric sensory, aching burning, (help: PYRIDOSIN) overdose pyridoxin: ganglionpathy Chloramhenicol: mild sensory Metronidazole (plus cerebellum) Dapsone Nitrofurantoin ```

Question 36

Polyneuropathy Drug induced | 3) Cardiac Drugs

Answer 36

Amiodarone 5% motor sensory neuropathy Hydralazine Niacin

Question 37

Polyneuropathy Drug induced | 4) others

Answer 37

``` PYT Disulfiram Statin Colchicine (more myopathy) Thalidomde Amitriptyline trichlorethylen: Cranial nerves NO ```

Question 38

Common causes of mononeuritis multiplex (9)

Answer 38

``` Polyarteritis nodosa Isolated vasculitis of peripheral nerve Wegener Diabetes HNPP Cryoglobulinemia Sarcoidosis Lyme Disease HIV ```

Question 39

Rare causes for Mononeuritis Multilex (8)

Answer 39

``` paraneoplastic Amyloidosis Leprosy SLE Rheumatoid Artrhritis Leukemia-Lymphoma infiltration Intravascular lymphoma Sjoegren Disease ```

Question 40

Polyarteritis Nodosa PN

Answer 40

50% clinical and 75% involvement of peripheral nerves other: abdo pain, hematuria, fever, eosinophilia, HTN, asthma, Glomerulonephritis and hemorrhgaic lung ``` Multifocal infarcts abrupt pain numbness cranial nerves rare CSF = normal necrotizing arteritis on biopsy p-ANCA Tx: Steroids and Cyclophosphamide ```

Question 41

Churgh Strauss Hypereosinophilia PN

Answer 41

``` excess eosinophils lung and skin (induced by zafiruklast) Churgh Strauss: Rhinitis and ASthma for years c-ANCA acute painful neuropathy ```

Question 42

Wegener

Answer 42

1) mononeuritis multiplex vascular 2) lower cranial nerves c-ANCA

Question 43

c-ANCA

Answer 43

Churgh Strauss Wegener intravascular Lymphoma (HIV?, TB?)

Question 44

Cryoglobulinemia

Answer 44

purpura, glomerulonephritis, athralgia Polyneuropathy: slow progressive, associated with Hepatitis C

Question 45

Rheumatoid Artritis PN

Answer 45

1-5% PN

Question 46

SLE

Answer 46

Lupus: 10% sensorimotor symetric relapsing remitting axonal commonly

Question 47

Sarcoidosis

Answer 47

subacute chronic polyneuropathy poliradiculopathy mononeuropaty FAcial Nerve

Question 48

Lyme Neuropathy

Answer 48

1) CN: bilateral facial - aseptic meningoradiculitis 100 cells CSF - radiculitis: BANNWARTH SYNDROME with cauda equina involvement, bladder 2) multiple mononeuropathies (foot wrist drop) 3) lumbar/brachial plexopathy 4) generlaized sensory neuropathy with encephalopathy 5) acute GBS WESTERN BLOT more specific Ceftriaxone, Doxycycline

Question 49

Sjoegren Neuropathy

Answer 49

``` chronic slowly progressive, lymphocytic infiltration of glands, arthritis, sensory neuropathy 87% older women: paresthesia sensory ataxia ANTO -RO, SS-A anti -La or SS-B ```

Question 50

Wartenberg Syndrome

Answer 50

Numbness after reaching, stretching | no reflex loss

Question 51

Celiac Sprue Neuropathy

Answer 51

Sprue: cerebellar ataxia myoclonus senory neuropathy Antigliadin AB

Question 52

Polyneuropathy with Paraproteinemia (6)

Answer 52

M-spike 1) M-gus - -- MAG - -- POEMS 2) POEMS 3) MM 4) Waldenstroem 5) Cryoglobulinemia 6) Acquired Amyloid neuropathy

Question 53

Monoclonal Gammopathy of undetermined Significance MGUS

Answer 53

``` non neoplastic IgM monoclonal males 60s slow onset numbness feet then hand wasting areflexia CSF protein 50-100 demyelinating mixed axo-dem ```

Question 54

Anti MAG

Answer 54

``` Proprioception, gait imbalance, tremor, romberg later weakness, atrophy Myelin-Associated Glycoprotein (MAG) Demyelinating No conduction blocks PE, Rituximab, Cyclophosphamide ```

Question 55

GALOP

Answer 55

``` Gait Disorder Autoantibody Late-age Onser Polyneuropathy ``` Sensory more than motor IgM versus cetral myelin Cyclophosphamide

Question 56

POEMS

Answer 56

``` Osteosclerotic Myeloma Polyneuropathy Organomegaly Endocrinopathy M protein Skin changes ``` CROW FUKASE SYNDROME males, 60% 5year survival osteosclerotic lesions, sensory loss, areflexia, HYPERHIDROSIS Demyelinating later axonal Endocrnology DM, Hypothyroid, Gynecomastia Disc swelling in 50% SERUM: VEGF!!!! High Protein in CSF HHV8?

Question 57

MMN Multifocal Motor Neuropathy and Multifocal Conduction Blocks

Answer 57

``` anti GM1 men acute onset of wrist or foot drop painless no sensory symptoms !! demyelinating: after weeks atrophy and fasciculations Areflexia NO BABINSKY ```

Question 58

MADSAM

Answer 58

``` multifocal acquired demyelinating sensory and motor neuropathy Lewis Sumner NO GM1 Arms more than Legs Distal more than Prox Diaphragm Conduction blocks CSF high but under 100 NO IgM anti GM1 ```

Question 59

MMN Multifocal Motor Neuropathy and Multifocal Conduction Blocks

Answer 59

``` anti GM1 men acute onset of wrist or foot drop painless no sensory symptoms !! demyelinating: after weeks atrophy and fasciculations Areflexia NO BABINSKY ```

Question 60

MADSAM

Answer 60

``` multifocal acquired demyelinating sensory and motor neuropathy Lewis Sumner NO GM1 Arms more than Legs Distal more than Prox Diaphragm Conduction blocks CSF high but under 100 NO IgM anti GM1 ```

Question 61

Lipid Metabolism with Neuropathy (7)

Answer 61

1) MLD - arylsulfatase - demyelinating 2) Krabbe - beta glaktosidase - dem/axonal 3) ALD - ABCD1 - dem/ax 4) Refsum - dem - Phytanic 5) Fabry - axonal - alha galactosidas 6) Tangier - axonal - ABC1 7) Bassen Kornzweig axonal MTP

Question 62

CMTx

Answer 62

connexin 32

Question 63

HMSN III CMT 3

Answer 63

Dejerine Sotas PMP22 P0 infant severe

Question 64

CMT1B

Answer 64

MPZ mutation | dominant, Chr. 1

Question 65

HMSN III CMT 3

Answer 65

Dejerine Sotas PMP22 P0 infant severe

Question 66

Long thoracic Nerve

Answer 66

``` C5,6,7 serratus anterior fixating scapula to chest wall palsy: - no raising of arm over head - winging scapula ```

Question 66

Long thoracic Nerve

Answer 66

``` C5,6,7 serratus anterior fixating scapula to chest wall palsy: - no raising of arm over head - winging scapula ```

Question 67

Suprascapular Nerve

Answer 67

``` C5,6 M. supra- and infraspinatus weak external rotation weak abduction first 15 degrees --- herniated C5C6 disc ```

Question 67

Suprascapular Nerve

Answer 67

``` C5,6 M. supra- and infraspinatus weak external rotation weak abduction first 15 degrees --- herniated C5C6 disc ```

Question 68

Axillary Nerve

Answer 68

C5 (6) teres minor deltoid muscle --- no lifting between 15-90 Degrees

Question 68

Axillary Nerve

Answer 68

C5 (6) teres minor deltoid muscle --- no lifting between 15-90 Degrees

Question 69

Musculocutaneous nerve

Answer 69

``` C5,6 biceps brachii, brachialis, coracobrachialis weakness of flexion sensation: forearm reduced humerus fracture ```

Question 69

Musculocutaneous nerve

Answer 69

``` C5,6 biceps brachii, brachialis, coracobrachialis weakness of flexion sensation: forearm reduced humerus fracture ```

Question 70

Radial Nerve

Answer 70

C6,7,8 triceps, brachioradialis, supinator muscle PIN posterior interossei nerve: extensor of wrist fingers, no extension of forearm, no suppination, no wrist finger extension, no thumb extension and abduction in palm plane, sensory: forearms and hand radial side dorsum crutch palsy in axilla pressure palsy fracture humerus

Question 70

Radial Nerve

Answer 70

C6,7,8 triceps, brachioradialis, supinator muscle PIN posterior interossei nerve: extensor of wrist fingers, no extension of forearm, no suppination, no wrist finger extension, no thumb extension and abduction in palm plane, sensory: forearms and hand radial side dorsum crutch palsy in axilla pressure palsy fracture humerus

Question 71

Median Nerve

Answer 71

C5, 6, 7, 8 Th1 pronators forearm, long finger flexors, abductor opponens pollicis sensory palmar no abductor pollicis breavis and flexor, no opponens

Question 71

Median Nerve

Answer 71

C5, 6, 7, 8 Th1 pronators forearm, long finger flexors, abductor opponens pollicis sensory palmar no abductor pollicis breavis and flexor, no opponens

Question 72

Ulnar Nerve

Answer 72

C8, Th1 hypothenar, abductor adductor fingers, clawhand

Question 79

Ulnar Nerve

Answer 79

C8, Th1 hypothenar, abductor adductor fingers, clawhand

Question 80

Anterior Interosseus Nerve

Answer 80

Only Motoric flexor pollicis longus pronator quadratus the radial half of flexor digitorum profundus (the lateral two out of the four tendons). As opposed to carpal tunnel syndrome, the AIN has no sensory fibers and therefore no numbness associated with the Anterior Interosseous Syndrome. Kiloh Nevin Syndrome If asked to make the "OK" sign, patients will make a triangle sign instead. This 'Pinch-Test'

Question 81

Meralgia Paraestetica

Answer 81

L2-3 thigh to knee sensory DM Obesity Pregnancy

Question 82

Obturator Nerve

Answer 82

L3-4 Adductors Internal and external rotators injury by fetal head or forceps during birth

Question 83

Femoral Nerve

Answer 83

``` L2,3,4 knee extension weakness #1 DM pelvic tumor bleeding into iliopsoas retroperoneal ```

Question 84

differentiate Femoral from L3,4 root lesion:

Answer 84

In femoral nerve, hip adduction by obturator is intact in L3 lesion no hip adduction

Question 85

Sciatic nerve

Answer 85

L4,5, S1,2 disc L4-5: - L5 root; pain in thigh, numbness inner foot, weakness of dorsiflexion, disc L5-S1: - S1, pain, numbness lateral foot, weakness of plantar flexion loss of ankle jerk

Question 86

Common peroneal

Answer 86

head of fibular: - superfiscial peroneal: - - sensory dorsum of foot except between 1-2 finger - - lateral lower aspect sensory of leg - -- EVERSION but NOT INVERSION (L5, tibial) Deep peroneal: - - dorsiflexion foot and toe - -- sensory patch between 1-2

Question 87

Tibial Nerve

Answer 87

Calf muscles - plantar flexion - Inversion - - sensation plantar of foot

Question 88

MFN2

Answer 88

CMT2A Aut Dom Optic atrophy