Lower Motor Neuron Disease Flashcards
Two LMN disease due to lesion in the AHC
Spinal Muscular Atrophy and Poliomyelitis
Five non-traumatic PNI
Infectious, Diabetes, Immune-Mediated, Toxic, Hereditary Neuropathy
Three LMN disease due to lesion in the NMJ
Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome, Botulism
A group of autosomal RECESSIVE disorders with degeneration in the AHC
Spinal Muscular Atrophy
What is the affected chromosome in SMA?
Chromosome 5
What is the affected gene in SMA?
SMN 1 (Survival Motor Neuron)
What is the substitute of SMN 1?
SMN 2
The severity of the SMA depends on the number of what gene in the body?
SMN 2
What is the only medication for SMA?
Spinraza
What does spinraza do to help patients with SMA?
Strengthen SMN 2
What is the unique manifestation of SMA patients?
Increase IQ
SMA: Later onset
SMA 3
SMA: Adult-onset
SMA 4
SMA: 3-6 months onset
SMA 1
SMA: Near normal lifespan
SMA 3
SMA: (+) severe and progressive muscle weakness
SMA 1
SMA: Infantile onset
SMA 1
SMA: Chronic Juvenile
SMA 3
SMA: 6-18 months onset
SMA 2
SMA: (+) Gower’s sign
SMA 3
What is the name of SMA 1?
Acute Werdnig - Hoffman
What is the name of SMA 3?
Kugelberg-Walender
What is the name of SMA 2?
Chronic Werdnig Hoffman
What is the lifespan SMA 2?
Mid 20’s
What is the common cause of death of SMA 1?
Respiratory Failure
SMA: (+) sit, stand, walk
SMA 3
What is the hallmark of SMA 1?
Tongue Fasciculations
What are the 2 deformities under Arthrogryposis?
Scoliosis and Severe joint contracture
What are the 2 deformities present in SMA 1?
UE: Jughandle position; LE: Frog-leg position
What is the position of Jughandle and Frog-leg position?
ABER
SMA: after 18 months; 5-15 years onset
SMA 3
SMA: <2 years lifespan
SMA 1
What is the muscle weakness present in SMA 3?
Static, very, slowly, progressive muscle weakness
“Kennedy’s Disease”
Spinobulbar Muscle Atrophy
Who is predominately affected by Kennedy’s disease?
Male
What is type of genetic disorder is Kennedy’s disease?
X-linked recessive
What is the gene affected in Kennedy’s disease?
Androgen Receptor Gene
What are the 3 LMNL manifestations of Kennedy’s disease?
(+) Generalized Weakness, (+) CN involvement, (+) Endocrinopathy
What are the 3 manifestations of Endocrinopathy in Kennedy’s disease?
Gynecomastia, Decrease Fertility, Testicular Atrophy
What is disease due to inflammation of the gray matter in the AHC?
Poliomyelitis
What is the other name of Poliomyelitis?
Heine-Medin Disease
What is the epidemiology of Poliomyelitis?
Male = Female; Child > Adult
What is the etiology of Poliomyelitis?
Enteroviral (Picorna Virus)
What is the route of Poliomyelitis?
Fecal-oral
Polio Virus: Most Fatal
Leon
Polio Virus: Most Paralytogenic
Brunhilde
Polio Virus: Most Frequent
Lansing
What is the key prevention of Poliomyelitis?
Vaccine
What vaccine is administered intramuscularly?
Salk
What vaccine is administered orally?
Sabin
Two types of Acute Minor Polio
Asymptomatic and Abortive
Two types of Acute Major Polio
Non-paralytic and Paralytic
Acute Polio: (+) Viremia
Asymptomatic
Acute Polio: (+) Meningitis
Non-paralytic
Acute Polio: (+) Influenza-like symptoms
Abortive
Three types of Paralytic Polio
Spinal, Bulbar, Bulbospinal
Paralytic Polio: Lesion at AHC
Spinal Polio
Paralytic Polio: Phrenic Nerve Involvement
Bulbospinal
The first area to get damage in Spinal Polio
Lumbar Area
The first area to atrophy in the Spinal Polio
Proximal > Distal
The first muscle to atrophy in the Spinal Polio
Quadriceps
The cranial nerves affected in Bulbar Polio
CN 5, 9, 10, 11
The common cause of death of Bulbospiral Polio
Respiratory Failure
What extremity is more affected in Spinal Polio?
LE > UE
How long does the acute stage of polio last?
<2 years
What stage of polio rehabilitation starts due to all the s/sx subsides?
Recovery Stage
What stage where the recovery of muscle plateaus?
Stage of Chronicity
What paralysis is present in the Stage of Chronicity?
Residual Paralysis
What are the criteria used to identify if the patient is post-polio syndrome?
Halstead and Rossi Criteria
How long should the partial to complete functional recovery patient has to confirm it is post-polio syndrome?
15 years
How long should the symptoms persist a patient has to confirm it is a post-polio syndromre?
1 year
What are the three other items of Halstead and Rossi Criteria?
Confirmed history of paralytic polio, onset of new muscle weakness, no other medial diagnosis
NMJ: Post-synaptic disorder
Myasthenia Gravis
NMJ: Incrementing Muscle Response
LEMS
NMJ: Decrementing Muscle Response
Myasthenia Gravis
NMJ: Pre-synaptic disorder
LEMS
Myasthenia Gravis is common in what type of patients?
Thymoma
LEMS is common in what type of disease?
Lung cancer
What cell is present in LEMS?
Oat cell / Small cells
What is the protein that kills ACH in Myasthenia Gravis?
Acetylcholinesterase
What gender is predominantly affected with Myasthenia Gravis?
Females
What gender is predominantly affected with LEMS?
Male
What do the antibodies destroy in Myasthenia Gravis?
ACH receptors
What do the antibodies destroy in LEMS?
Calcium Channel
What CN involved in Myasthenia Gravis?
CN 3,4,6
What is the most common symptom in MG?
Ptosis»_space; Opthalmoplegia
What is the extremity more affected in MG and LEMS?
Proximal > Distal
What are the symptoms present in MG that is also presenting MS?
Heat Sensitivity
What nerve affectation present in LEMS?
Autonomic Nerves
What is the diagnostic tool of MG?
Tensilon Test / Endophonium
What is the area tested in Tensilon Test?
EOM
What are the three medications of MG?
Stigmine = Neostigmine, Pyridostigmine, Physostigmine
How long is the half-life of Stigmine medications?
2-4 hours
What is the medications of LEMS?
Guanidine
What is the mechanism Guanidine used to help LEMS patients?
Helps ACH to flow out from NMJ
What is the crisis due to the over-accumulation of ACH in the synaptic cleft?
Cholinergic Crisis
NMJ disease due to clostridium botulism toxin?
Botulism
What type of synaptic disorder botulism is?
Pre-synaptic
What botulism causes in the pre-synaptic NMJ?
Total nerve blockage
Three sources of botulism?
Infantile, Wound, Food
What is the nerve affected is botulism?
Phrenic Nerve Affectation
What pattern does the weakness present in botulism?
Descending pattern
What are the 2 weaknesses present in botulism?
Generalized and Oculobulbar muscle weakness
True or False: botulism has autonomic dysfunction?
True
What is the common cause of death in botulism?
Respiratory Failure
What is the medications for botulism?
HBAT: Heptavalent Botulinum Anti-Toxin
What disease is an example of Immune-mediated Non-traumatic PNI?
GBS
Two other names of GBS
Acute Inflammatory Demyelinating Polyneuropathy, Landry’s Paralysis
What is the demyelinating disease of CNS?
Multiple Sclerosis
What is the demyelinating disease of PNS?
GBS
What most common paralysis GBS results in?
Acute Flaccid Paralysis
6 most common clinical presentation of GBS?
API-SAD: Autoimmune, Post-infectious, Idiopathic, Self-limiting, Ascending, Demyelinating
What protein causes GBS?
IgG
What is the 3 intervention to combat GBS IgG?
Plasma Pheresis, IV Ig, Rehabilitation
What is the common virus that causes GBS?
Campylobacter jejuni
What are the other two viruses that cause GBS?
Cytomegalovirus, Epstein Barr Virus
When does recovery start in GBS?
3-18 months
True or False: There is a full recovery in GBS
True
What are the 5 poor prognosticating factors of GBS?
MADCA: Male, Advance Age, Diarrhea, Cytomegalovirus, Axonal Form
What is the hallmark paralysis of GBS?
ABS: Ascending, Bilateral, Symmetrical
What are the two diagnostic tools of GBS?
NCV and Cytoalbuminologic dissociations
True or False: GBS has increase NCV?
False
True or False: There is an increase in albumin and decrease cells in the GBS
True
What is the common cause of death in GBS?
Respiratory Failure
What are four types of GBS?
AIDP, Axonal Forms, Miller Fisher Variant, Acute Pandysautonomia
Type of GBS: South America and Asia
Axonal Forms
Type of GBS: North America and Europe
AIDP
Type of GBS: classic and most common
AIDP
Type of GBS: descending form
Miller Filler Variant
Type of GBS: Most Fatal
Acute Pandysautonomia
What is the CN affected in AIDP?
CN 7, 9, 10, 11
What is the CN spared in AIDP?
CN 3, 4, 6
What the most common CN affected in AIDP?
CN 7
What are three manifestations of AIDP motor paralysis?
LE>UE; Symmetrical, Proximal > Distal
What is the most common presenting symptom?
Paresthesia (Gloves and stocking sensation)
What LMN lesion seen in AIDP?
Areflexia
What type of pain presents in AIDP?
Aching pain on the affected muscle
What are the spared structures in AIDP?
Ocular Muscle, Sensory System, Onufruwic’s nucleus
Two axonal forms of GBS?
AMAN and AMSAN
What age group predominantly affected in the AMSAN?
Pedia
What age group predominantly affected in the AMAN?
Geria
What is the triad of Miller-Fisher Variant?
AOA: Ataxia, Areflexia, Ophtalmoplegia
What is the CN affected in Miller-Fisher Variant?
CN 3, 4, 6
What nerve affectation is present in Acute Pandysautonomia?
Autonomic nerve affectation
What are the three causes of death of Acute Pandysautonomia?
Cardiac failure, respiratory failure, infection
“Tic borne disorder”
Lyme’s disease
What bacteria causes Lyme’s disease?
Spirochaetes Borella Burgdorferi
What is the medication used for Lyme’s disease?
Ceftriaxone
Most common neurologic abnormality of Lyme’s disease?
Meningitis
Most common CN affected in Lyme’s disease?
CN 7
What extremity is more affected in Lyme’s disease?
LE > UE
Stage of Lyme: (+) distal symmetric affectation
Late infection
Stage of Lyme: (+) erythematous lesion
Early infection
Stage of Lyme: (+) CN affectation
Disseminated Infection
“Harsen’s disease”
Leprosy
What bacteria causes leprosy?
Myobacterium Leprae
What is the medication used for Leprosy?
Dapsone
Two types of leprosy
Tuberculoid and Lepromatous
Type of Leprosy: Severe
Lepromatous
Type of Leprosy: (+) Lepromin test
Tuberculoid
Type of Leprosy: Mild
Tuberculoid
Type of Leprosy: Multibacillus
Lepromatous
Type of Leprosy: (+) granulomas
Tuberculoid
Type of Leprosy: (+) direct nerve involvement
Lepromatous
Type of Leprosy: (+) skin lesion
Tuberculoid
Type of Leprosy: Paucibacillus
Tuberculoid
The cranial nerve affected in Leprosy
CN 7 (facial) and 5 (posterior auricular)
The UE nerve affected in Leprosy
Ulnar, Median, Superficial Radial Nerve
The LE nerve affected in Leprosy
Common Peroneal, Sural, Interdigital Nerve
The most common cause of non-traumatic PNI
Diabetic Neuropathy
What does high blood sugar inhibit in the body?
Nitric oxide (vasodilator)
Three types of diabetic neuropathy
Symmetric, Asymmetric, Focal
The 3 cranial nerve affected in Focal diabetic neuropathy
CN 3, 6, 7
The 3 peripheral nerve affected in Focal diabetic neuropathy
Median, Ulnar, Peroneal
What is the most common diabetic neuropathy
Symmetric
“Diabetic Amyotrophy”
Asymmetric
The 2 peripheral nerve affected in asymmetric diabetic neuropathy
Femoral and Obturator nerve
What the extremity affected in symmetric and asymmetric diabetic neuropathy?
LE > UE (Proximal)
“Chronic sensorimotor distal polyneuropathy”
Symmetric
“Proximal motor neuropathy”
Asymmetric
Two types of toxic neuropathy
Alcohol and Lead
What causes toxic neuropathy?
Decrease Vitamin B1 (thiamine)
What condition is caused by a decrease in Vit B1?
Beri-beri
Other names of Alcohol Toxic Neuropathy
Wernicke’s - korsakoff disease
What is the triad of Alcohol Toxic Neuropathy?
ADO: Ataxia, Dementia, Opthalmoplegia
What is the nerve affected in mild lead toxic neuropathy?
Radial nerve
What is deformity present in lead toxic neuropathy?
(B) wrist drop
What condition results from severe lead toxic neuropathy?
ALS
What is the most common neuropathy seen in lead toxic neuropathy?
Motor > Sensory
Hereditary motor sensory neuropathy
Charcot-Marie-Tooth Disease
What is the muscle atrophies in CMTD?
Peroneal muscle
What is the chromosome affected in CMTD?
Chromosome 17
What is the genetic course of CMTD?
Autosomal Dominant
What is the gene affected in CMTD?
CMT
What are the two-foot deformities seen in CMTD?
Pes Cavus and Stork Leg deformity
What sign seen in stork leg deformity?
Inverted Champagne Bottle Sign
Type of CMTD: Refsum’s Disease
CMTD 4
Type of CMTD: (+) Spinocerebellar Ataxia
CMTD 5
Type of CMTD: Hypertrophic myelin sheath
CMTD 1
Type of CMTD: Axonal
CMTD 2
Type of CMTD: (+) Optic neuropathy
CMTD 6
Type of CMTD: Dejerine-Sotta
CMTD 3
What is the hallmark of CMTD 1?
Onion-bulb formation
What causes the onion-bulb formation?
Frequent demyelination and remyelination
True or False: There is an increase in NCV in CMTD 1
FALSE (always decrease in demyelinating disease)
What acid over accumulates in the Schwann cells in CMTD 4?
Phytanic Acid
Type of CMTD: (+) Refinitis Pigmentosa
CMTD 7
Type of CMTD: Severe
CMTD 3
Type of CMTD: Autosomal Dominant
CMTD 1, 2, 3
Type of CMTD: Autosomal Recessive
CMTD 3, 4
Type of CMTD: (+) Hypertrophic neuropathic on infancy
CMTD 3
Type of CMTD: 1st decade
CMTD 1
Type of CMTD: 2nd decade
CMTD 2
What is the cranial nerve affected in CMTD 4?
CMTD 1 and 8
What NCV results present in CMTD 2?
Normal NCV
What is refinits pigmentosa?
Blindess of both eyes
What amyotrophic means?
Muscle atrophy
What lateral sclerosis means?
Hardening of lateral SC
3 other names of ALS
Adult motor neuron disease, Charcot’s disease, Lou Gehrig’s disease
Epidemiology of ALS
M>F; 40-60 years old
What is the etiologic of ALS?
Idiopathic
What is the medication for ALS?
Riluzole / Rilutek
What is the NT that increases the death of motor neurons?
Glutamate
What are the diagnostic criteria used to diagnose ALS?
El Escorial Criteria
What is the 4 region used in El Escorial Criteria
Head, trunk, UE, LE
El Escorial: (+) UMN of 2 regions
Clinically Possible
El Escorial: (+) UMN and LMN in 3-4 regions
Clinically Definite
El Escorial: (+) UMN and LMN in 2 regions
Clinical Probable
El Escorial: (+) UMN and LMN in 1 region
Clinically Possible
What are the 3 variants of ALS?
Pure UMN, Pure LMN, Pure CN
Variant: Pure UMN
Primary Lateral Sclerosis
Variant: Pure CN
Progressive Bulbar Palsy
Variant: Pure LMN
Progressive Muscular Atrophy
What is the cardinal sign of LMN-ALS
Cervical extensor weakness (Head drop)
What is the weight loss seen in ALS?
ALS cachexia
What causes ALS cachexia?
Muscle atrophy and decrease intake
What deformity seen in the hands of ALS patients?
Cadaveric or Skeletal hand
What 6 cranial nerves affected by ALS?
CN 5, 7, 9, 10, 11, 12
What 6 structures spared in ALS?
COMONS: Cerebellar system, Ocular muscle (CN 3,4,6), Mental status, Onufruwic’s Nucleus, Non-motor nerves (CN 1,2,8), Sensory
AHC in cervical nerve 3-4
Phrenic
AHC in spinal nerve 2
Onufruwic
What is the function of Onufruwic’s nucleus?
For bowel and bladder
What are the 5 poor prognosticating factors of ALS?
BPOLS: Bulbar dysfunction, Pulmonary Dysfunction, Old Age, LMN at onset, Short-time period from onset to diagnosis
What are the 5 types of ALS according to etiology?
Sporadic, Familial, Juvenile, Guamanian, Secondary
Type of ALS: Most common and classic form
Sporadic ALS
Type of ALS: Autosomal Dominant
Familial ALS
Type of ALS: <25 years old
Juvenile ALS
Type of ALS: secondary to lead toxicity and cancer
Secondary ALS
Type of ALS: western pacific
Guamanian ALS
What chromosome is affected in Familial ALS?
Chromosome 21
What gene is affected in Familial ALS?
SOD 1 (superoxide dismutase)
What toxicity of the Guamanian ALS?
Cycadseed Toxicity
Juvenile ALS: teenager
ALS 5
Juvenile ALS: <10 years
ALS 2
Juvenile ALS: <25 years
ALS 4
Juvenile ALS: Autosomal Dominant
ALS 4
Juvenile ALS: Autosomal Recessive
ALS 5, 2
Type of ALS: (+) frontotemporal dementia
Guamanian ALS
What is the chromosome affected in ALS 5?
Chromosome 15
What is the chromosome affected in ALS 2?
Chromosome 2
What is the chromosome affected in ALS 4?
Chromosome 9
Most inheritable neuropathy?
CMTD
Benchmark of motor neuron disease?
ALS
