Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Brain Power: Adam and Victor's Neurology > Muscle > Flashcards

Muscle Flashcards

1
Q

What is the clinical picture of Trichinosis?

A

Puffy face with tender muscles. There is ocular muscle weakness, tongue weakness, masseter and pharyngeal muscle weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the most realiable confirmatory test for a diagnosis of Trichinosis?

A

Biopsy of about 500mg of muscle demonstrating, encysted larvae, eosinophilia and inflammatory myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the treatment for Trichinosis?

A

Albendazole/Thiabendazole + Prednisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What parasite causes the pseudohypertrophy of thigh and calf muscles?

A

Cysticercosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the main differential for HIV myopathy and how to distinguish between the 2?

A

Zidovudine induced myopathy showing ragged red fibers on biopsy. HIV myopathy is also associated with severe generalized muscle weakness that characterizes advanced cachectic AIDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

T or F. HIV myopathy has NORMAL CK enzymes

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What factors favor IBM over polymyositis?

A
  1. Onset more than 50
  2. Normal CK
  3. Aberrant pattern: early wrist, finger flexor, quad, ankle dorsiflexion involvement
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

In polymyositis what percentage of patients have sparing of facial and distal muscles?

A

75%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the skin changes that precede muscle weakness in Dermatomyositis?

A

Erythema, maculopapular eruption, scaling eczematoid dermatitis, exfoliative dermatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Where the the ff manifestations of DM located?

  1. V sign
  2. Heliotrope rash
  3. Gottron papules
  4. Shawl sign
A
  1. neck and upper shoulders
  2. eyelids, bridge of nose, cheeks, forehead
  3. papules on elboes, knuckles, IP joints
  4. shoulders and upper arms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What tumors are most associated with PM and DM?

A

Men: Lung and colon
Women: Breast and ovarian

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What treatment for RA increases the incidence of or precipitates a myositis?

A

d-penicillamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

20 percent of PM and DM have concomittant: arthritis, Raynaud syndrome, mechanic’s hands– what is the antibody associated with these synthetase syndrome

A

anti Jo1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the typical myopathic findings in EMG?

A
  1. brief action potentials of low voltage
  2. fibs
  3. polyphasic units
  4. trains of positive sharp waves
  5. myotonic activity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How to differentiate between the pathologic findings in DM vs PM

A

DM is characterized by perifascicular atrophy in contrast to evident necrosis of single fibers of PM

DM microvascular changes are also seen

PM inflammatory infiltrates by mononuclear cells are found scattered throughout the muscle unlike DM perimysial connective tissure only

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Which one PM or DM is mediated by humoral response? cytotoxic response?

A

PM Cytotoxic

DM Humoral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is thetreatment for DM and PM?
1st line
2nd line
Acute and severe cases

A

1st line: 1g per kg of prednisone. Taper when Cks are normal and weakness has subsided

2nd line: Methotrexate and Azathioprine

Acute and severe: MPPT and IVIG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the most common inflammatory myopathy in patients older than 50 years old?

A

Inclusion body myositis

NOT INCLUSION BODY MYOPATHY!!!!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the pattern of weakness in inclusion body myositis?

A

Distal in the arms, proximal and distal in the legs
MORE FOCAL compared to DM/PM
Selective weakness of the flexor pollicis longus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which has depressed reflexes at the onset? PM/DM/IBM

A

IBM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the characteristic histopathologic findings in inclusion body myositis?

A

Intracytoplasmic, subsarcolemmal vacuoles and eosinophilic inclusions in both the cytoplasm and nuclei of degenerating muscle fibers

Save from this the muscle looks like less severe PM with CD8 T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

T or F CKs can be high in muscular dystrophy

A

T! In some…

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How to differentiate polymyalgia rheumatica with PM DM?

A

NORMAL CK and biopsy
Rapid response to prednisone WITHIN 48 HOURS!
HIGH sedimentation rate more than 65
Related to temporal arteritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Which among these are characteristic of Duchenne/Becker OR Emery Dreifuss OR both

  1. Onset at the 1st decade
  2. X linked RECESSIVE
  3. Proximal muscles
  4. Cardiac arrhythmias
  5. Greated CK elevation
A
  1. DB
  2. BOTH
  3. BOTH
  4. ED>DB
  5. DB
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What muscular dystrophy has its onset on the 2nd to 3rd decade, with a dysferlin pathology and begins in the DISTAL MUSCLES

A

Miyoshi myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What percentage of Duchenne muscular dystrophy HAVE NO HISTORY OF THE DISEASE?

A

30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

In duchenne what is affected first? Pelvicrural OR pectoral girdle OR bulbar?

A

Pelvicrural then pectoral girdle

The ocular facial and bulbar muscles are spared

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Becker muscular dystrophy patients have normal mentation and may walk into adulthood. T or F?

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the histopathologic picture of duchenne and becker?

A

Segmental degeneration and phagocytosis of single muscle fibers and evidence of regenerative activity –> advanced; loss of muscle fibers, residual fibers of larger and smaller size, fibrosis and increase in lipocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

T or F dystrophin is absent in patients with becker and duchenne

A

F. Present to some extent in Becker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is dystrophin attached to inside and outside?

A

Attached to F actin of cytoskeleton inside and outside attached to dystrophin associated proteins and glycoproteins that link the sarcolemmal membrane to the extracellular matrix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What protein is deficient in emery dreifuss and what is its function?

A

Emerin– part of the nuclear membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Which of the ff are true of the Landouzy Dejerin Muscular Dystrophy?

  1. May be associated with congenital muscle absence
  2. Frequent cardiac involvement
  3. Caused by deletions at the tip of chromosome 6p interfering with chromatin structure
  4. Popeye arms
A
  1. T
  2. F
  3. F. gene 4q
  4. T

AKA Fascioscapulohumeral dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

In Kearns-Sayre syndrome what is the first muscle to be affected

A

AKA as progressive external ophthalmoplegia

The eyelid levators are the first to be affected causing ptosis followed by EOM paralysis

Other features of KS syndrome include pigmentary retinopathy– less commonly, bilateral sensorineural deafness, heart involvement (cardiomyopathy, cardiac conduction defect), central nervous system involvement (cerebellar ataxia, dysarthria, bilateral facial weakness, intellectual deficit), skeletal muscle myopathy, intestinal disorders, endocrine disorders (delayed puberty, hypoparathyroidism, diabetes), and renal failure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

In the Kearns Sayre syndrome hutchinsonian facies seen because of?

A

In an attempt to raise the eyelids, the forehead is wrinkled and the head is thrown back

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What genes are involved int he developement of the Kearns Sayre syndrome?

A

POLG
ANT1
Twinkle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

At what age do the ff present?

  1. Oculopharyngeal dystrophy
  2. Progressive extrenal ophthalmoplegia
  3. Fascioscapulohumeral MD
  4. Emery dreifuss
  5. Becker MD
  6. Duchenne MD
A
  1. 6th to 7th decade
  2. Usually in adolescence
  3. 6-20 years old
  4. VARIES: Childhood, late adol, adulthood
  5. usually at 12 years old
  6. 3-6 years old
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is the trinucleotide repeat sequence at chromosome 19q causes myotonic dytrophy?

A

CTG in the DMPK gene chromosome 19q– intron therefore not coding for proteins

Normal: 5-30 CTG repeats
MD: 50-20,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What are the first muscles affected in the myotonic dystrophy type 1?

A

The small muscles of the hands along with extensor muscles of the hands along with the extensor muscles of the forearms

BUT in some ptosis of the eyelids and thinness and slackness of the facial muscles may be the earliest signs

RECALL THAT IBM ALSO PRESENTS WITH INITIAL ATROPHY OF HAND MUSCLES–both conditions present with distal weakness that is “atypical” of myopathies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What non muscular tissues are affected in myotonic dystrophy type 1?

A

Lens of the eye– 90% OF PATIENTS WILL HAVE LENTICULAR OPACITIES
brain–mild to moderate degrees of developmental cognitive delay
testicle atrophy
frontal alopecia
esophagus
heart
skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Define myotonia

A

Prolonged idiomuscular contraction following brief percussion or electrical stimulation and in the delay of relaxation after strong voluntary contraction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What muscles show myotonia at best in MD1?

A

Tongue and flexors of fingers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are the pathologic features of MD1?

A
  1. Hypertrophy of type 1 fibers
  2. Peripherally placed sarcoplasmic masses and circular bundles of myofibrils (ringbiden)
  3. Central nuclei much like myotubular myopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What protein is missing in miyoshi dystrophy?

A

Dysferlin responsible for calcium mediated membrane repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is the pattern of miyoshi myopathy?

A

Distal myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Polymyositis can be distinguished from dystrophy on the basis of CK elevation except in which dystrophies that also present with elevated CKs

A

Duchenne and Miyoshi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

T or F Prednisone trial for 6 months can distinguish between polymyositis and dystrophy

A

T. If it improves then PM!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

How to distinguish between SMA and myositis?

A

EMG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is the dose of prednisone for muscular dystrophy?

A

0.75mg per kg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What drug has been shown to reduce myotonia?

A

Mexiletine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

ALL THE GLYCOGENOSES ARE INHERITED AS AUTOSOMAL RECESSIVE TRAITS EXCEPT FOR?

A

X linked phosphoglycerate kinase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the enzyome missing in patients with

  1. Pompe disease
  2. McArdle Disease
  3. Tarui
  4. Cori forbes
  5. Andersen disease
A
  1. Acid maltase
  2. Myophosphorylase
  3. Phosphofructokinase
  4. Debranching enzyme
  5. Branching enzyme
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is the treatment for Pompe disase?

What are the 3 kinds of acid maltase deficiency?

A

Recombinant acid alpha-glucosidase

  1. Infant (Pompe) MOST SERIOUS
  2. Child
  3. Adult
54
Q

What are the similarities in McArdle and Tarui disease in terms of clinical manifestations?

What are the deficient enymes in McArdle and Tarui?

A

Development of muscle cramps AFTER EXERCISE and second wind after increasing cardiac output and substituting fatty acids for glucose.

There is a physiologic contracture during exercise– myoglobinuria can also occur

McArdle myophosphorylase aka known as glycogen phosphorylase
Tarui Phosphofructokinase

55
Q

What type of Carnitine Palmitoyltransferase Deficiency causes necrosis of muscle fibers?

A

Type 1 causes necrosis of muscle fibers
IIa lipid bodies accumulate in the liver
IIb excess lipid in the heart liver kidneys muscle

56
Q

What are the most weakened muscles in Chronic Thyrotoxic myopathy?

A

Basedow paraplegia: Pelvic girdle and thighs

NB: This can be present in patients with NO OVERT signs of thyrotoxicosis

57
Q

What treatments are available for thyrotoxic hypokalemic periodic paralysis?

A
  1. Potassium chloride 100-200mg to terminate the disease

2. Propanolol 160mg daily in divided doses

58
Q

What percentage of MG patients have Hyperthyroidism?

A

5%

Those with hyperthyroidism is 20-30x more likely to develop MG

59
Q

What parts become weak with corticosteroid induced myopathies?

A

Limb and girdle musculature

60
Q

What muscle fibers are affected with steroid myopathy?

A

2b

61
Q

What drug is most associated with critical illness polyneuropathy?

A

Neuromuscular blocking agents

Steroids are also associated with acute myopathy

62
Q

What mushroom causes acute necrotizing myopathy?

A

Amanita phalloides

63
Q

What acute necrotizing myopathy is PAINLESS?

A

Hypervitaminosis of vitamin E

64
Q

What drugs cause amphiphilic cationic drug myopathy?

A
  1. Chloroquine
  2. Amiodarone
  3. Perhexiline

Also cause sensoriumotor neuropathy

65
Q

What two drugs cause antimicrotubular myopathy and peripheral neuropathy?

A

Vincristine and Colchicine

66
Q

Among the toxin induced myopathies almost all have increased creatinine EXCEPT FOR?

A

Chronic steroid myopathy

Mitochondrial myopathy

67
Q

What drugs can cause mitochondrial myopathy?

A

Zidovudine and Germanium

68
Q

What treatment can be given for patients wiy myoglobinuria?

A
  1. Alkalinization of urine

2. Diuresis with mannitol or loop diuretics

69
Q

What gene confers a risk for statin induced myopathy?

A

SLCO1B1 that codes for an organic anion-transporting polypeptide

70
Q

What drug for gout causes an acute necrotizing myopathy?

A

Colchicine

Interferes with the polymerization of micrtotubules in muscle and nerve

71
Q

Central core disease, Nemaline rod myopathy and Myotubular myopathy all present in what decade of life?

A

1st

72
Q

What is the level of CKs in congenital myopathies?

A

Normal or slightly elevated

73
Q

All central core myopathy patients have a tendency to develop what disease?

A

Malignant hyperthermia

74
Q

How to differentiate central core myopathy and nemaline rod myopathy clinically?

A

Facial, lingual and pharyngeal muscles are involved in Nemaline but spared in central core

75
Q

What disease make a person more prone to cramping?

A

Motor system disease
Hypothyroidism
Chronic polyneuropathy
Nerve or root injury

76
Q

What are treatments for cramping?

A

Quinine sulfate
Diphenhydramine
Procainamide

77
Q

What composes the Satoyoshi syndrome?

A 
Widespread cramping
Alopecia
Amenorrhea
Malabsorption
Epiphyseal destructoin

YOUNGER THAN 20 YEARS OLD

78
Q

What is the characteristic pattern of weakness in IBM?

A

Usually more focal than PM and DM (may present as isolated weakness of the flexor policies longus, quads and neck extensors)– distal in the UE BOTH distal and proximal in the LE

79
Q

What limb girdle muscular dystrophy type mimics:

  1. Emery Dreifuss
  2. Becker/Duchenne MD
A
  1. LGMD 1B

2. LGMD 2C-F

80
Q

What LGMD has a common gene/ protein deficiency affected with Miyoshi myopathy? What is this protein?

A

LGMD 2b, Dysferlin

81
Q

Which among the dystrophies has onset at 6th to the 7th decades?

A

Oculopharyngeal dystrophy

82
Q

Which of the dystrophies has massive CK elevation up to 50x?

A

Miyoshi myopathy and Becker/Duchenne

83
Q

Identify mode of inheritance

  1. LGMD 1
  2. LGMD 2
  3. Duchenne
  4. Emery dreifuss
  5. Becker
A
  1. LGMD 1 AD
  2. LGMD 2 AR
  3. Duchenne XRec
  4. Emery dreifuss XRec
  5. Becker XRec
84
Q

What muscles are weak in a patient with a waddling gait?

A

Bilateral gluteus medius

85
Q

What are the ECG features of Duchenne muscular dystrophy?

A

Prominent on the right precordial leads and deep Q waves in the left precordial and lim leads

86
Q

How does one distinguish limb girdle muscular dystrophy 2c-F from Duchenne muscular dystrophy?

A

Mode of inheritance: X linked recessive for Duchenne while autosomal recessive from LGMD 2. LGMD2 resembles a severe Duchenne muscular dystrophy.

87
Q

What type of limb girdle muscular dystrophy has its defect in the dystrophin associated glycoproteins? alpha beta gamma delta

A

LGMD 2C-F aka severe childhood autosomal recessive muscular dystrophy

(Maybe that’s why they mimic each other?)

88
Q

What is the inheritance pattern of PEO?

a. AR
b. AD
c. Maternal mitochondrial pattern

A

A and C are the most common but all can occur depending on the gene effected

89
Q

What 3 conditions come to mind in a patient with difficulty in both eye opening and closure?

A
  1. Progressive external ophthalmoplegia
  2. MG
  3. Myotonic dystrophy
90
Q

The facial muscles masters, SCMs, deltoids and the peronei are variable weak and wasted in 25% of cases of PEO. How can be PEO be distinguished from other entities that involve eye movement and other muscles?

A

Ptosis and ocular paralysis precede involvement of other muscles by many years

91
Q

What muscular dystrophy presents with bilateral ptosis and dysphagia?

A

Oculopharyngeal dystrophy

92
Q

Identify the inheritance pattern:

  1. Myotonic dystrophy
  2. Miyoshi myopathy
  3. Oculopharyngeal dystrophy
  4. Progressive external ophthalmoplegia
  5. Limb girdle muscular dystrophy
A
  1. Myotonic dystrophy AD
  2. Miyoshi myopathy AR
  3. Oculopharyngeal dystrophy AD
  4. Progressive external ophthalmoplegia AD/AR/Mitochondrial
  5. LGMD: Type 1 is AD Type 2 is AR
93
Q

Describe MD facies of hatchet face with a swan neck.

A

Ptosis, frontal baldness, wrinkled forehead with exaggerated forward curvature of the neck

94
Q

Why do MD patients have:

  1. Nasal voice
  2. Megacolon
  3. Problems giving birth
  4. Chronic bronchitis
  5. Prolonged PR interval
A
  1. Pharyngeal muscle weakness
  2. Loss of smooth muscles
  3. Uterine muscle weakness
  4. Diaphragmatic weakness and alveolar hypoventilation
  5. Myocardium involvement
95
Q

How does one differentiate MD from emery dreifuss if cardiac involvement is found in both? Bases: Contractors and inheritance

A

ED: + Contractures X rec
MD: - Contractures AD

But of course the myotonia of MD will set it apart

96
Q

What are the 4 striking features of MD?

A
  1. Ptosis with limb weakness
  2. Cardia-autoimmune features
  3. Myotonia
  4. Dystrophic change in non muscular tissues
97
Q

What percentage of MD patients have lenticular opacities?

A

90% on slit lamp

98
Q

What feature of MD is not present in congenital MD?

A

Myotonia.

There is profound hypotonia, drooping eyelids, carp mouth, open jaw

99
Q

What is the inheritance pattern of the distal muscular dystrophy Welander? How does the disease progress?

A

Autosomal dominant!

VERY SLOWLY. After 10 years weakness of proximal muscles may also be seen

100
Q

What type of LGMD mimics Miyoshi myopathy in terms of gene and protein affected?

A

LGMD 2B– BUT THE distribution of weakness is DIFFERENT

101
Q

What 3 points, taken together can distinguish polymyositis from dystrophy?

A
  1. Course: PM is much faster
  2. Level of CK and aldolase: Only Duchenne and Miyoshi have high CKs among the dystrophies
  3. Trial of prednisone will improve PM but not dystrophy: do for SIX MONTHS
102
Q

What are the 3 avenues for treatment of dystrophy?

A
  1. Steroids
  2. Injection of human myoblasts
  3. Injection of an antisense oligonucleotide to accomplish exon skipping resulting in functional dystrophin
103
Q

What are the findings in the adult acid maltase deficiency?
CKs
EMG

A

CKs normal or slightly increased
EMG brief motor unti potentials, high frequency discharges, occasional myotonic discharges WITHOUT CLINICAL evidence of myotonia

104
Q

What form of acid maltase deficiency is worst? Infant, Childhood, Adult?

A

Infant! Pompe Disease

105
Q

What is the biochemical basis of second wind in Tarui and McArdle disease?

A

Increase in cardiac output and substituting free fatty acids and blood borne glucose for muscle glycogen

106
Q

Which one? Tarui or McArdle

Prevention of the conversion of glycogen to glucose 6 phosphate

A

McArdle
Enzyme: Myophosphorylase

Tarui: G6P to G1P by phosphofructokinase

107
Q

How does the forearm ischemic test identify patients with Tarui or McArdle?

A

1 min vigorous hand exercise then BE at 1 min and another at 3 min– if lactate does not increase then +

108
Q

What drink are given to patients with McArdle and Tarui?

A

Sucrose 75g drink

109
Q

What are the 2 functions of carnitine in the metabolism of fatty acids?

A
  1. Transport long chain fatty acylcoenzyme A from the cytosol compartment of the muscle fibers into the mitochondria where they undergo beta oxidation
  2. Prevent the intramitochondrial accumulation of acyl-CoAs protecting the muscle cells from the membrane destabilizing effects of theses substances
110
Q

Differentiate the inheritance pattern and treatment for:

  1. Primary systemic carnitine deficiency
  2. Carnitine palmitoyltransferase deficiency
A
  1. l-carinitine for cardiomyopathy, AR
  2. high carbohydrate low fat diet ingestion of frequent meals and additional carbs before and during exercise, AR

Carnitine is linked to the fatty acid by CPT1 so they can have cross the outer membrane of the mitochondria. Once inside they are linked by to CoA for beta oxidation. Carnitine is recycled back to the outer membrane.

111
Q

What are the 3 manifestations of fatty acid metabolic pathway deficiencies?

A
  1. Encephalopathic syndrome in infancy or childhood, SIDS
  2. Myopathic syndrome, infancy to adulthood, with or without cardiomyopathy
  3. Rhabdomyolysis after an episode of sustained physical activity and fasting– begins in the second decade of life
112
Q

What are the usual muscles that show atrophy in chronic thyrotoxic myopathy?

A

Shoulder and hands

113
Q

T or F: The diagnosis of chronic thyrotoxic myopathy is mainly clinical, classic signs of hyperthyroidism are a requirement for diagnosis.

A

F

114
Q

What is the most important muscle abnormality in hypoparathyroidism?

A

Tetany

115
Q

What congenital myopathy presents in the 1st decade with proximal and distal weakness with ophthalmoparesis and ptosis?

A

Myotubular myopathy– X-linked condition

116
Q

What is special about these muscular dystrohpies?

  1. LGMD1A
  2. LGMD1B
  3. LGMD2B
  4. LGMD2C-F
  5. LGMD2A
A
  1. LGMD1A: AD Distal more than proximal; Allelic with myofibrillar myopathy
  2. LGMD1B: AD Similar to emery dreifuss
  3. LGMD2B: Allelic to Miyoshi myopathy– dysferlin is affected
  4. LGMD2C-F: Same phenotype as Becker dystrophy
  5. LGMD2A: Accounts for 40% of LGMD patients– calpainopathy
117
Q

What is atypical about Miyoshi myopathy, Welander myopathy, TIbial muscular dystrophy?

A

Distal weakness first before proximal

118
Q

What is the second common muscular dystrophy in Japan?

A

Fukutin Congenital muscular dystrophy: severe mental retardaiton and developmental anomalies of the cortex

119
Q

What Congenial muscular dystrophy?

  1. Presents with hypotonia, diffuse weakness, mental retardation, cataracts, retinal dysplasia, retinitis, glaucoma (2); Elevated CKs
  2. No elevatin in CK; restricted flexion of the neck and spine, multiple contractures, spared cognition.
A
  1. Muscle eye brain disease OR Walker Warburg disease

2. Rigid spine syndrome

120
Q

Dfx polymyositis from musucular dystrophy.

A
  1. Polymyositis is faster
  2. Immunostaining
  3. Trial of prednisone for 6 months– if there is imporvement then this is PM
121
Q

What is the treatment for muscular dystrophies?

A
  1. Prednisone 0.75mg per kg daily may retard progression for duchenne
  2. Mexiletene for myotonic dystrophy
122
Q

What do patients with primary systemic carinitine deficiency die of?

A

Cardiomyopathy

123
Q

What is the treatment for carnitine palmitoyltransferase deficiency?

A

High carbohydrate
Low fat diet
Additional carbs before and during exercise

Bezafibrate for CPT II

124
Q

What percentage of patients with myasthenia gravis also have hyperthyroidism?

A

5%

125
Q

What are the muscle fiber types that atrophy during corticosteroid myopathy?

A

Type 2b

126
Q

What part of muscle is depleted in steroid induced myopathy?

A

Myosin

127
Q

What electrolyte should be checked for patients with solitary bone cysts who present with acute myopathic weakness?

A

Phosphorous

128
Q

What is the most common cause of arthrogryposis?

What are other causes?

A

Werdnig Hoffman Disease
(SMA type 1)

Myotonic dystrophy
Congenital myasthenia
Congenital myopathy
Congenital muscular dystrophy
Neonatal neuropathy
Prader Willi syndrome
Amyoplasia
129
Q

What is the key differentiating feature of congenital structural myopathies compared to muscular dystrophy?

A

Lack of progression or VERY SLOW progression

130
Q

What gene or chromosome is defective in central core disease?

This makes the patient susceptible to?

A

Ryanodine receptor

Malignant hyperthermia from anesthetics later in life.

131
Q

Treatment for myositis ossificans?

A

EHDP

Ethane 1 hydroxy 1,1-diphosphonate to inhibit deposition of calcium phosphate

Brain Power: Adam and Victor's Neurology (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions