NM I Flashcards
Acute onset of dysautonomia in a smoker with lung mass
ab against ganglionic nicotinic acetylcholine receptor
DMD protein and inheritance
dystrophin x-linked recessive
throat, tongue, and ear pain with syncope
glossopharyngeal neuralgia
Emery-Dreifuss (gene,inheritance)
LMNA, autosomal dominant or x-linked, Emerin,
Central core myopathy ( pathologic findings, clinical assocation)
NADH stain reveals absence of mitochonfia associated with malignant hyperthermia
Tarui disease (enzyme)
phosphofructokinase def.
Hirschsprung’s disease (gene, absence of ____)
RET oncogene, myenteric plexus
Cori’s disease
debranching enzyme def
% with Musk antibodies and predominant symptoms
50% , more bulbar and neck flexors
Mcardles (type V) disease enzyme
myophosphorylase deficiency
Dermatomyositis (pathologic findings)
perifascicular atrophy
Myotonic dystrophy DM1 (gene
CTG repeat , DMPK gene
Antibody in LES
presynaptic P/Q-type voltage gated Calcium channel
Pompe’s disease (enzyme) (glycogenosis II )
acid maltase def
Oculopharyngeal dystrophy (gene)
GCG repeat, PABP2 gene
Myotonic dystrophy DM2 (gene)
CCTG repeat, zinc finger protein gene
Inclusion Body myositis (pathologic finding)
rimmed vacuoles
Critical illness myopathy (pathologic finding)
Myosin loss
Andersen’s disease (enzyme)
branching enzyme deficiency
Myotonia congenita gene/chrom
CLCN1 Chrom 7q
Big calves, tongue, heart, liver, hypotonia (infants),
Pompe’s
Exercise induces weakness and cramping with second wine phenomenon
Mcardles
liver disease and myopathic weakness
Coris
liver failure in a kid
anderson’s type IV
Giant Axonal Neuropathy Pathognomonic feature
LARGE focal AXONAL swelling
Refsum’s Disease Unique Acid Build up
Phytanic Acid
MG % decrement on rep stim 2 hz
10%
LEMS % increment on rep stim 20-50hz
50%
Familial Amyloidand Polyneuropathy ( FAP) : Type I and Type II involve mutation in _____
transthyretin ( II = carpal tunnel, I = ANS sx)
FAP type III gene
apolipoprotein A1
FAP type 4 gene
gelsolin
3 demyelinating CMTs
CMT1 CMTX, CMT4
CMT1A gene defect
duplication in PMP22 chromosome 17
CMT1B mutation
myelin protein 0
Roussy-Levy syndrome
static tremor and gait ataxia + CMT1A
CMTX gene
conneXin 32 gene
Axonal type of CMT
CMT2
CMT2 with optic atrophy
CMT2A2 (two eyes)
CMT2 with vocal cord parlaysis/respiratory sx
CMT2C (c for chest)
HNPP mutation
DELETION in PMP22
Recurrent UE mononeuropathies preceded by pain and/or mechanical stress
Parsonage Turner Syndrom
Tangier’s Autosomal ______, gene/chrom
Recessive, ABCA1 gene, 9q31
orange tonsils and neuropathy
tangier’s
AMSAN antibodies
GM1, GM1b, GD1a
Benedictine sign
median neuropathy (Papal hand)
Claw hand
ulnar neuropathy (hyperextension at MCP with flexion at IP)
Wartenberg’s sign
ulnar neuropathy (fifth digit abduction)
Froment’s sign
ulnar neuropathy ((papter between thumb and index finger then thumb flex occurs )
OK sign
anterior interosseous neuropathy ( cannot touch finger tips together
Miller fisher Ab
GQ1b
Acute sensory neuropathy Ab
GD1b
MMN Ab
GM1
Small cell paraneoplastic neuropathy Ab
Anti-Hu
CIDP number of weeks
8 weeks
Muscle group weak in radial nerve injury proximal to spiral groove
forearm extensors
Familial Amyloid Polyneuropathy type 2
b/l CTS, transthyretin
Familial amyloid polyneuroapthy type 4
Corneal dystorphy
Demyelination in Monoclonal gammopathy Ab
anti-MAG
Sensory loss, acral mutilation, ANS
HSAN
Episodes of painful burning in the hands and feet with heat exposure
primary erythromelalgia (also in fabry’s)
AMAN Ab
GM1, GM1b, GD1a, Galnac-GD1a
FAP type 1
Cardiac, renal, ANS, sensory polyneuropathy
Porphyria w/o photosensitivity
AIP
Fabry’s inheritance and gene
alpha galactosidase , x-inked
Retinitis Pigmentosa + neuropathy _ ataxia + Low VLDL + acanthocytes (inheritance ?)
Abetalipoproteinemia autosomal recessive
