NMuscular Flashcards
(105 cards)
1
Q
DMD, when do symptoms appear?
When average age of diagnosis?
A
Symptoms: 2.5 years
Diagnosis: 5
2
Q
Typical Development DMD
A
Not smart to start
Delayed motor, language, cognitive
Slower ambulatory gains (4-7)
Declining strength and lungs (7-13)
3
Q
Most famous tests for DMD
A
Gower’s
4
Q
Specific components of lower motor neurons
A
- Anterior Horn
- Peripheral nerve
- Neuromuscular junction (NMJ) - pre/post synapse
- Muscle
5
Q
Endocrine in Myotonic Dystrophy
A
Hypothyroid
Insulin resistence
6
Q
What do DMD patients need for their hearts?
A
Automatic defibrillator
7
Q
What sense needs to be monitored with FSHD
A
Hearing!!! Coates syndrome (early onset FSHD)
8
Q
New genetic types of LGMD
A
Sarcoglycanopathies
dysferlinopathies
calpainopathis
FKRP (Fukutin) opathies
9
Q
Lead
A
-anorexia
-nausea and vomiting
-fatigue
-clumsiness and ataxia
-cognitive impairment
Electrodiagnostic: axonal degeneration motor > sensory
-Lead lines in bones
10
Q
Chromosom for all Spinal Muscular Atrophy (SMA)
A
5q13
11
Q
What is Narp (mitochondrial disease)
A
limb weakness, sensory neuropathy, ataxia
12
Q
CIDP
A
Like AIDP but comes and goes and stays
13
Q
Two types of Myotonic muscular dystrophy
A
DM1 (distal)
DM2 (proximal)
14
Q
What is FSHD
A
Fascioscapulohumeral Muscular Dystrophy
15
Q
What is “second wind” in McArdle’s
A
With onset of myalgia, resting allows continuation with no symptoms
16
Q
List Congenital Myopathies
A
Central Core Nemaline Myopathy Centronuclear Severe x-linked Centronuclear (myotubular) Myopathy Minicore disease Congenital Fiber-Type Size Disproportion
17
Q
Infantile botulism
A
Presents between 10 days to 6 months
acute onset: Hypotonia, dysphagia, weak cry, respiratory insufficiency
Exam: weakness diffuse, ptosis, ophthalmoplegia with dilation pupils, reduced gag, ok DTRs
18
Q
McArdle’s onset
A
Poor endurance during childhood
Exercise induced cramps and myalgia
Symptoms precipitated by lifting weights or stairs
19
Q
Benefit of aerobic exercise
A
Improve strength
Better cardiac pump function
Improved exercise performance
20
Q
Loci for DMD
A
Xp21
Codes for the protein dystrophin
21
Q
Loss of ambulatory milestones DMD
A
lose jump, hop, run Gower's Sit up from supine Stairs walk stand in place
22
Q
What does respiratory compromise due in dystrophies
A
Hypercapnia
23
Q
Myotonic Dystrophy, what is the biggest concern?
A
Heart. Arrhythmias get worse. Risk of sudden death
24
Q
What happens to the eyes in Myotonic Dystrophy
A
Cataracts before 55
25
Which transmission is worse, paternal or maternal
Maternal, often increased repeats over that of mom
26
What happens to scapula in FSHD
Lateral
Superior
Forward
27
Inheritance of Emery-Dreifuss Muscular Dystrophy
X-linged recessive progressive dystrophic myopathy due to Emerin
28
What is the 10-meter walk/run test and why important
12 seconds or longer to ambulate 10 meters means losing ambulation within a year
29
Ataxia telangiectasia
Autosomal recessive, 0-10, ataxia, dysarthria, ocular telangiectasis, immune deficiency, risk of cancer
30
MNGIE (mitochondrial disease)
```
PEO
Severe gi dysmotilitiy
cachexia
peripheral neuropathy
diffuse bleukoencephalopathy
```
31
What is LGMD
Limb Girdle Muscular Dystrophy
32
Spinocerebellar degeneration Diseases
Friedreich's ataxia
| 28 or more distinct autosomal dominant spinocerebellar degenerative ataxias
33
Benefit of steroids in DMD
Adds extra 2 years of walking
34
Freidreich's Ataxi
```
Onset before age 20
Autosomal recessive
Protein Frataxin
Progressive ataxic gait, cerebellar dysfunction with tremor and dysmetria, dysarthria, decreased proprioception or vibratory or both
absent DTRs
Babinski, Spasticity
Lower extremity weakness and small muscles in hands and feet
Death from cardiomyopathy age 30 to 70
100% scoliosis
"Idebenone" med like CoQ10
```
35
What is a quick way to rule out DMD
Normal CK
36
Becker's In-frame or out of frame mutation
In frame
37
Spinal Deformities (Scoli)
May be less with deflazacort in DMD
38
Is exercise good in DMD
Yes. Keeps less decline
39
DMD and Beckers, weakness prox or distal?
Proximal
40
Inheritance Myotonic Dystrophy
Autosomal dominant
41
Cognition in Myotonic Dystrophy
Severe cognitive impairment in congenital. In other onset IQ 86-92. Frequent daytime hypersomnolence
42
Direct Diagnosis of Infantile botulism
measure clostridium botulinum toxin in rectal aspirate
43
2 basic origins of NMDs (NeuroMuscularDiseases)
Acquired or Hereditary
44
FVC below 30 to 40% means increased??
Peri-operative morbidity. But can do fusion.
45
SMA Type I Common Name
Werdnig-Hoffmann (severe form)
| -Onset birth to 6 mo, death by 2
46
Correlate of development of LE contracture in DMD
Wheelchair reliance
47
Mercury
- generalized encephalopathy
- fatigue
- distal motor axonal neuropathy
- ataxia and absent DTRs
- Motor axonal degeneration, normal sensory NCV
48
How common is FSHD compared with DMD and Myotonic Dystrophy
DMD 1st
Myotonic 2nd
FSHD 3rd
49
Organ systems of Myotonic Dystrophy
```
Muscles
Eyes: cataracts
Heart: Conduction
Lungs: restrictive
Brain: Cognitive
Endocrine: diabetes
```
50
Inheritance pattern limb girlde muscular dystrophy
```
Autosomal dominant (LGMD1)
Autosomal recessive (LGMD2)
But now many types
```
51
Efficacy of prednisone v deflazacort for DMD
Same benefits
52
Examples of neuromuscular junction disorders
```
Transient neonatal myesthenia
Congenitl Myasthenic Syndromes
Autoimmune Myasthenia Gravis
Infantile Botulism
Noninfantile acquired botulism
```
53
Electrodiagnostics of infantile botulism
```
Reduced CMAP
Velocities preserved
fibs
spontaneous rest activity
short-low amp muaps
```
54
How soon is cardiac disease seen
Almost invariably present with onset
55
Types of genetic dysfunction for DMD/BMD
Deletion of exons 60%
out-of-frame deletions -- very bad
in-frame -- less bad
Other types: single nucleotide variants, small deletions or insertions in the coding sequence, or splice site variant
56
Protein and calorie needs in dystrophies
160%
57
Loss of non-ambulatory milestones DMD
```
Can't reach overhead
Can't reach scalp
Self-feed
Can't lift hands to tabletop
Can't use computer
```
58
Name 6 toxic neuropathies
1. Arsenic
2. Lead
3. Mercury
4. Organophosphate
5. Glue sniffing (N-Hexane)
6. Chemo
59
Is cardiac dysfunction high in BMD
Yes
60
What is Pompe's disease
Acid Maltase deficiency in which there is glycogen accumulation in muscle. High risk of death, esp with anesthetics
61
Where is the protein dystrophin in the body
1. intracellular of plasma membrane all skeletal muscle cells
2. certain types of neurons
3. cardiac muscle cells
4. Purkinje cells of cardiac conduction
5. Smooth muscle cells of GI tract
62
Pattern of weakness in Limb Girdle
Proximal upper limbs
| Proximal lower limbs (girdle)
63
Strength in slowly progressive neuromuscular disease
Must be supervised
| Submaximal exercise
64
Peripheral Nerve Disorders
AIDP - Acute Inflammatory Demyelinating PolyN (Guillan - Barre)
CIDP - Chronic Inflammatory Demyelinating Polyradiculoneuropathy
CMT - Charcot Marie Tooth, Hereditary Motor Sensory Neuropathy (HMSN)
Toxic (Arsenic, Lead, Mercury, Organophosphate, glue sniffing (N-hexane), chemo (Vincristine))
Metabolic Neuropathies
65
When do congenital muscular dystrophies present
At birth or first few months
66
Chemo
Vincristine
- distal weakness
- Absent DTRs
- foot drop
- Reduced CMAP and neuropathic recruitment
67
Is Myotonic Dystrophy proximal or distal
Distal (one of the few dystrophic myopathies to do so)
68
Exercise in rapidly progressive disorders
Eccentric with more mechanical stress probably bad and probably part of the reason why eccentric high muscles (hip extensors, quads, gastrocs) weaken first
Do submaximal strengthening
69
Pulmonary milestone loss DMD
FVC < 50% use cough assistance
FCV < 40% use non-invasive vent
FCV <30% use vent overnight
70
AIDP electrodiagnostic findings
Prolonged or absent F wave
Slowing of conduction velocities both prox and distal
Prolonged distal motor latency
reduction of CMAP amplitude with conduction block
Temporal dispersion of CMAP
71
Glue sniffing (N-hexane)
Can have distal motor and sensory demyelination
72
SMA Type III Common Name
- Kugelberg-Welander, mild form
- Onset after 18 months
- can stand and walk
- death in adulthood
73
Organophosphate
- insecticides
- high temp lubricants or plastics
- Encephalopathy, confusion and coma
- Cholinergic crisis: sweating, cramps, constricted pupils
- Rapidly progressive motor neuropathy
74
Most useful clinical criteria DMD v BMD
Age of transition to wheelchair: BMD ambulate past 16 years.
75
Name of the two steroids for DMD
1. Prednisone
| 2. deflazacort
76
What is the pathology of McArdle's
Can't use glycogen normally
77
SMA Type II (No Common Name)
Intermediate Form
- Onset by 18 months
- Sitting obtained
- Never walk
- Death after 2, mostly adult
78
Things to try for diagnosis of DMD
1. CK
2. Genetic testing (deletions obvious, but 40% less frequent)
3. Muscle biopsy
4. Dystrophin expression analysis
79
AIDP
Autoimmune demyelination motor more than sensory
CSF protein up
EMG findings confirmatory
Worst at 2 weeks, months to full recovery (common for kids)
Treatments: steroids, plasma exchange, IVIG
80
Hallmark contractors of Emery-Dreifuss
Elbow flexion contractures
81
Benefits of deflazacort
1. Less weight gain
| 2. Less behavioral side effects
82
DMD, what happens to weight after fusion
Goes down
83
3 Motor Neuron Disorders (Anterior horn and brainstem motor nuclei)
- SMA1
- SMA2
- SMA3
84
When to do spine fusion Beckers
Scoli 30 degrees and FCE > 30% predicted
85
If ankle plantar of hip abduction contractures happen in early decline of gait???
Surgery fast and careful. Do not over lengthen. Do not lengthen late = rapid and immediate loss of gait. Goal is really to wear KAFO, not to affect the gait cycle itself.
86
What is MERRF (mitochondrial disasea)
Myoclonus, seizures, ataxia, ragged red fibers (type of mitochondrial myopathY)
87
Contractures in dystrophic myopathy
High degree of fibrosis and fatty infiltration
Must adjust static position of joints
Passive stretching best for still ambulatory with light contractures
88
What is CMT3
Charcot Marie Tooth #3, Dejerine-Sottas
Severe hypertrophic demyelinating polyneuropathy
Onset infancy or childhood
NCV less than 10 m/sec
89
What is PEO (mitochondrial disease)
Progressive External Ophthalmoplegia
90
Symptoms of arsenic poisoning
- looks like Guillain-Barre or CIDP
- GI, tachycardia, hypotensive
- Mee's lines in nails
- Alopecia
91
Operative dangers with Becker's
Malignant hyperthermia
92
Cardiac involvement in Myotonic Dystrophy
75%, dysrhythmia, esp heart block. 1% risk of sudden death each year.
93
DMD
Duchenne Muscular Dystrophy -- a Dystrophinopathy
94
How many NMDs affect other organs
MANY!
95
What is myotonia in Myotonic Dystrophy
Delayed relax of grip, or of percussion myotonia, can treat with mexilitine
96
What side effects to look for prednisone/deflazacort
1. cataracts
2. Hypertension
3. Weight gain
4. Osteoporosis
5. Growth retardation
6. Diabetes
7. Messed up behavior
97
Becker's treatments
1. Maybe prednisone, plus/minus effective
2. Short course of creatine monohydrate
3. ACE inhibition or angiotensin receptor blockers for cardiomyopathy
98
Genetics of Spinal Muscular Atrophy
All caused by mutations in telomeric SMN1
All patients have at least one copy of centromeric SMN2
SMA Type 1, <3 copies SMN2
SMA Type 2, 3 copies SMN2
SMA Type 2, 3 4-8 copies SMN
99
What is McArdle's disease
The most common glycogen storage disease
| Myophosphorylase deficiency
100
What is MELAS (Mitochondrial disease)
Stroke like young age
encephalopathy with seizures and dementia
Ragged red fibers
101
What are mitochondrial encephalomyopathies
Genetic disorders of the mitochondrial DNA
102
Face of Myotonic Dystrophy
Lugubrious: temporal and master wasting, frontal balding, tent shaped mouth
103
Types of Congenital Muscular Dystrophy
```
Merosin Deficient
Merosin Positive
Fukuyama
Muscle eye brain
Ullruch
```
104
What is HMSN
Hereditary Motor Sensory Neuropathy - Charcot-Marie-Tooth
105
Examples of Mitochondrial myopathies
Kearns-Sayre syndrome: PEO, retinitis pigments, and complete heart block
