Neuromuscular Flashcards
CMT 1 gene, sx, axonal vs. demyelinating?
PMP22 duplication
Classic sx
Demyelinating
CMT2 sx, axonal vs. demyelinating?
less severe, later onset than 1
Less severe foot and ortho
Demyelinating
Dejerine-sottas AKA, sx
CMT3, hypertrophic neuropathy of infancy
Bad. Neonatal, Proximal weakness, absent DTRs
CMT 4 sx, axonal vs. demyelinating?
CMT sx +
Possible hearing and vision loss
severe scoliosis
Demyelinating and axonal
Giant Axonal Neuropathy mutation, target
GAN mutation, intermediate filaments of CNS and PNS
Giant Axonal Neuropathy sx
Sensorimotor neuropathy CS Tract --> UMN signs Optic atrophy tight curled hair walk on inside of feed
Giant Axonal Neuropathy path
Large focal axonal swellings with disorganized tightly packed neurofilaments
Multifocal motor neuropathy cause
Anti-GM1 antibodies
Purely motor demyelination
Multifocal motor neuropathy sx
Progressive asymmetric weakness –> wasting, cramps, fasciculations.
Primarily impacts arms and hands
Hyporeflexia
Multifocal motor neuropathy tx
IVIG q4-6 wk
Myotonic Dystrophy 2 genetics
CCTG repeat expansion zinc finger protein 9
Myotonic Dystrophy 2 sx
Proximal weakness, myotonia
less frequent cataracts and cardiac conduction probs
Myotonic Dystrophy path
Muscle fibers with multiple internalized nuclei
atrophic fibers with nuclear clumps
variable fiber sizes
Myotonic Dystrophy 1 genetics
CTG repeat expansion DMPK gene
Myotonic Dystrophy 1 sx
distal weakness Frontal balding temporalis atrophy cataracts cardiac conduction defects
Paramyotonia vs myotonia congenita sx
Paramyotonia - exercise worsens sx, worse in cold
Myotonia - warmup phenomenon
Central core myopathy sx
Risk malignant hyperthermia
weak and hypotonic from birth
primarily proximal weakness, hip > shoulder
Acute pandysautonomia cause, timing
Autoimmune autonomic ganglionopathy, antibodies vs. ganglionic nicotinic receptors
dvlp sx over weeks (pure autonomic failure develops over >1 year)
Inclusion body myositis age, sx
In adults >50
Atrophy and weakness wrist/finger flexors, and legs (proximal > distal)
Nemaline rod myopathy sx
Proximal weakness, respiratory problems, cardiomyopathy
Neonate with dysmorphic features, contractures
Nemaline rod myopathy path
punctate inclusions in cytoplasm, type 1 muscle fiber atrophy
Emery Dreifuss muscular dystrophy cause
Deficiency Emerin or Lamin A/C proteins
Emery Dreifuss muscular dystrophy sx
Contractures elbows, ankles, neck
UE earlier than LE
Prominent cardiac problems
normal IQ`
Myofibrillar myopathy sx
Congenital muscular dystrophy
Slow progressive diffuse weakness (LE > UE)
Hyporeflexia with peripheral neuropathy
Commonly cardiac conduction defects
Myofibrillar myopathy path
Sarcolemmal accumulation dense granular and filamentous material
Bethlem Myopathy cause, inheritance
AD, defect collagen type 6
Bethlem Myopathy sx
Contractures elbow and ankle
Hyperextensible IP joint
Primary lateral sclerosis sx
UMN only, signs 3+ years from onset
Primarily spasticity
No autonomic sx
Centronuclear myopathy sx, ages
Hypotonia, ptosis, oculomotor palsies
Bulbar weakness, poss respiratory involvement
Slow progressive infant/child onset, severe X linked neonatal, or adult onset
Primary HIV related myelopathy sx
Lateral and posterior column vacuolar myelopathy
No back pain, UE spared
Demyelination with axonal sparing
Progressive Muscular Atrophy sx
LMN only, progresses over 3-5 yr
Starts focal asymmetric distal weakness/atrophy
Younger onset than ALS
Kennedy’s disease AKA
X linked spinobulbar muscular atrophy
Kennedy’s disease mutation, population
CAG repeat expansion androgen receptor protein, Males ~4th decade
Kennedy’s disease sx
Weakness (prox >dist) --> atrophy, areflexia Tremors, muscle cramp, fasciculations bulbar signs later in course Gyenocomastia Endocrine abnl
SMA 1 age, AKA, sx
Infantile (Werdnig-Hoffman) - death by 2
Severe, never sit or limb antigravity mvts
Decreased fetal mvt, severe hypotonia, bulbar and respiratory probs
SMA 2 age, sx
Onset 1-2 yo
Sit but don’t walk
Motor delay, tremor, and contractures
SMA 3 age, AKA, sx
Juvenile (5-15yo), Kugelberg-welander
Remain ambulatory to adulthood
Present with difficulty walking
Prox muscle weakness, fine tremor, fasciculations
SMA 4 age, AKA, sx
Adult (3rd-4th decade), Pseudomyopathic Proximal weakness (predominantly quads) fasciculations
Hirayama disease population, sx, MRI
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
Bulbospinal neuronopathy sx
Chin twitch with lip pursing
tremors, cramps, fasciculations
limb weakness
Endocrine - gynecomastia, testicular atrophy
Kearns-sayre syndrome cause, sx
mitochondrial myopathy Progressive ophthalmoplegia pigmentary retinopathy ataxia cardiac conduction probs
Peroneal nerve fxn
Dorsiflex and evert foot
Sensory lateral leg, web of big toe (deep), dorsum foot (superficial)
Tibial nerve function
Plantarflex, invert
Sensory - bottom of foot
