Neuromuscular

Question 1

CMT 1 gene, sx, axonal vs. demyelinating?

Answer 1

PMP22 duplication
Classic sx
Demyelinating

Question 2

CMT2 sx, axonal vs. demyelinating?

Answer 2

less severe, later onset than 1
Less severe foot and ortho
Demyelinating

Question 3

Dejerine-sottas AKA, sx

Answer 3

CMT3, hypertrophic neuropathy of infancy

Bad. Neonatal, Proximal weakness, absent DTRs

Question 4

CMT 4 sx, axonal vs. demyelinating?

Answer 4

CMT sx +
Possible hearing and vision loss
severe scoliosis
Demyelinating and axonal

Question 5

Giant Axonal Neuropathy mutation, target

Answer 5

GAN mutation, intermediate filaments of CNS and PNS

Question 6

Giant Axonal Neuropathy sx

Answer 6

Sensorimotor neuropathy
CS Tract --> UMN signs
Optic atrophy
tight curled hair
walk on inside of feed

Question 7

Giant Axonal Neuropathy path

Answer 7

Large focal axonal swellings with disorganized tightly packed neurofilaments

Question 8

Multifocal motor neuropathy cause

Answer 8

Anti-GM1 antibodies

Purely motor demyelination

Question 9

Multifocal motor neuropathy sx

Answer 9

Progressive asymmetric weakness –> wasting, cramps, fasciculations.
Primarily impacts arms and hands
Hyporeflexia

Question 10

Multifocal motor neuropathy tx

Answer 10

IVIG q4-6 wk

Question 11

Myotonic Dystrophy 2 genetics

Answer 11

CCTG repeat expansion zinc finger protein 9

Question 12

Myotonic Dystrophy 2 sx

Answer 12

Proximal weakness, myotonia

less frequent cataracts and cardiac conduction probs

Question 13

Myotonic Dystrophy path

Answer 13

Muscle fibers with multiple internalized nuclei
atrophic fibers with nuclear clumps
variable fiber sizes

Question 14

Myotonic Dystrophy 1 genetics

Answer 14

CTG repeat expansion DMPK gene

Question 15

Myotonic Dystrophy 1 sx

Answer 15

distal weakness
Frontal balding
temporalis atrophy
cataracts
cardiac conduction defects

Question 16

Paramyotonia vs myotonia congenita sx

Answer 16

Paramyotonia - exercise worsens sx, worse in cold

Myotonia - warmup phenomenon

Question 17

Central core myopathy sx

Answer 17

Risk malignant hyperthermia
weak and hypotonic from birth
primarily proximal weakness, hip > shoulder

Question 18

Acute pandysautonomia cause, timing

Answer 18

Autoimmune autonomic ganglionopathy, antibodies vs. ganglionic nicotinic receptors

dvlp sx over weeks (pure autonomic failure develops over >1 year)

Question 19

Inclusion body myositis age, sx

Answer 19

In adults >50

Atrophy and weakness wrist/finger flexors, and legs (proximal > distal)

Question 20

Nemaline rod myopathy sx

Answer 20

Proximal weakness, respiratory problems, cardiomyopathy

Neonate with dysmorphic features, contractures

Question 21

Nemaline rod myopathy path

Answer 21

punctate inclusions in cytoplasm, type 1 muscle fiber atrophy

Question 22

Emery Dreifuss muscular dystrophy cause

Answer 22

Deficiency Emerin or Lamin A/C proteins

Question 23

Emery Dreifuss muscular dystrophy sx

Answer 23

Contractures elbows, ankles, neck
UE earlier than LE
Prominent cardiac problems
normal IQ`

Question 24

Myofibrillar myopathy sx

Answer 24

Congenital muscular dystrophy
Slow progressive diffuse weakness (LE > UE)
Hyporeflexia with peripheral neuropathy
Commonly cardiac conduction defects

Question 25

Myofibrillar myopathy path

Answer 25

Sarcolemmal accumulation dense granular and filamentous material

Question 26

Bethlem Myopathy cause, inheritance

Answer 26

AD, defect collagen type 6

Question 27

Bethlem Myopathy sx

Answer 27

Contractures elbow and ankle | Hyperextensible IP joint

Question 28

Primary lateral sclerosis sx

Answer 28

UMN only, signs 3+ years from onset Primarily spasticity No autonomic sx

Question 29

Centronuclear myopathy sx, ages

Answer 29

Hypotonia, ptosis, oculomotor palsies Bulbar weakness, poss respiratory involvement Slow progressive infant/child onset, severe X linked neonatal, or adult onset

Question 30

Primary HIV related myelopathy sx

Answer 30

Lateral and posterior column vacuolar myelopathy No back pain, UE spared Demyelination with axonal sparing

Question 31

Progressive Muscular Atrophy sx

Answer 31

LMN only, progresses over 3-5 yr Starts focal asymmetric distal weakness/atrophy Younger onset than ALS

Question 32

Kennedy's disease AKA

Answer 32

X linked spinobulbar muscular atrophy

Question 33

Kennedy's disease mutation, population

Answer 33

CAG repeat expansion androgen receptor protein, Males ~4th decade

Question 34

Kennedy's disease sx

Answer 34

``` Weakness (prox >dist) --> atrophy, areflexia Tremors, muscle cramp, fasciculations bulbar signs later in course Gyenocomastia Endocrine abnl ```

Question 35

SMA 1 age, AKA, sx

Answer 35

Infantile (Werdnig-Hoffman) - death by 2 Severe, never sit or limb antigravity mvts Decreased fetal mvt, severe hypotonia, bulbar and respiratory probs

Question 36

SMA 2 age, sx

Answer 36

Onset 1-2 yo Sit but don't walk Motor delay, tremor, and contractures

Question 37

SMA 3 age, AKA, sx

Answer 37

Juvenile (5-15yo), Kugelberg-welander Remain ambulatory to adulthood Present with difficulty walking Prox muscle weakness, fine tremor, fasciculations

Question 38

SMA 4 age, AKA, sx

Answer 38

``` Adult (3rd-4th decade), Pseudomyopathic Proximal weakness (predominantly quads) fasciculations ```

Question 39

Hirayama disease population, sx, MRI

Answer 39

Monomelic amyotrophy Young pts of asian origin Progressive asymmetric weakness of one or both hands - stays in hands High incidense atopic disorders MRI - cervical cord thinning with signal change

Question 40

Bulbospinal neuronopathy sx

Answer 40

Chin twitch with lip pursing tremors, cramps, fasciculations limb weakness Endocrine - gynecomastia, testicular atrophy

Question 41

Kearns-sayre syndrome cause, sx

Answer 41

``` mitochondrial myopathy Progressive ophthalmoplegia pigmentary retinopathy ataxia cardiac conduction probs ```

Question 42

Peroneal nerve fxn

Answer 42

Dorsiflex and evert foot | Sensory lateral leg, web of big toe (deep), dorsum foot (superficial)

Question 43

Tibial nerve function

Answer 43

Plantarflex, invert | Sensory - bottom of foot