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🧠📖💯 > Muscle > Flashcards

Muscle Flashcards

1
Q

Biopsy finding in Nemaline myopathy?

A

Rods

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2
Q

Biopsy finding in Central core disease?

A

Cores

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3
Q

Biopsy finding in myotubular myopathy?

A

Central nuclei

myotubular/centronuclear myopathy

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4
Q

Which myopathy can present with malignant hyperthermia?

A

Central Core Disease
RYR1 gene

Tx: Dantrolene

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5
Q

What is the most common type of congenital muscular dystrophy?
Mutation?

A 
Merosin-deficient CMD
LAMA2 mutation (laminin-a2)
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6
Q

What are the mutations for

DMD
BMD

A

DMD:
Dystrophin gene, Xp21
Altered frame mutation

BMD:
Dystrophin gene, Xp21
In-frame mutation

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7
Q

Re FSHD:

Mode of inheritance
Age at presentation
Genetic abnormality
Neurologic presentation
Systemic clinical presentation
A

AD
2nd decade

Contraction mutation, D4Z4
DUX4 retrogene

Asymmetric weakness of F,S muscles

Hearing loss,
Retinal telangiectasias, exudates, detachment (Coats disease)
Atrial arrhythmias

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8
Q

For Oculopharyngeal Muscular Dystrophy

A) Genetic abnormality
B) Clinical presentation

A

A) PABPN1, AD

B) Age: 50s; Ptosis, dysphagia, ophthalmoparesis (late)

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9
Q

Emery-Dreifuss Muscular Dystrophy

A) Clinical presentation?
B) Genetic abnormality?

A

EMD-1: Contractures -> weakness

EMD-2: Weakness -> contractures

Systemic: conduction abnormalities, CM

EMD-1: STA gene (emerin), X linked
EMD-2: LMNA (lamins A and C), AD/AR

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10
Q

What are the modes of inheritance and general characteristics of:

LGMD-1
LGMD-2

A

LGMD-1: AD, normal CK*
LGMD-2: AR, high CK, more common

*except LGMD1C (high CK, rippling muscles)

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11
Q

What are the genetic abnormalities and key features of the following

LGMD1A
LGMD1B
LGMD1C
LGMD1E

A

LGMD1A - MYOT, dysarthria

LGMD1B - LMNA, contractures

LGMD1C - CAV3, rippling, inc CK

LGMD1E - Unknown, myofibrillar myopathy, cardiomyopathy

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12
Q

What is the most common LGMD?
Genetic mutation?
Presentation?

A

LGMD2A (calpainopathy)

CAPN3 mutation

Proximal lower extremity > upper Ex weakness
Scapular winging

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13
Q

What are the genetic abnormalities and/or key features of the following

LGMD2B
LGMD2I
LGMD2C-F

A

LGMD2B - DYSF (dysferlinopathy), a/w Miyoshi myopathy (calf wk)

LGMD2I - FKRP, dystroglycanopathy

LGMD2C-F - Sarcoglycanopathies

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14
Q

Mutations in which gene causes IBM + Paget disease + FTD?

A

VCP

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15
Q

Carnitine Palmitoyltransferase Deficiency II:

A) PP
B) Clinical presentation
C) Triggers of rhabdo

A

A) Transport of ACYLCARNITINE across inner mitochondrial membrane impaired

B) 1st-2nd decade: Paroxysmal myoglobinuria on prolonged exercise, myalgia

C) Meds: diaz, VA, anesthesia
Fs: fasting, fever, fat intake, fection

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16
Q

McArdle Disease / Glycogenosis Type V

A) PP/Genetics
B) Clinical presentation
C) Diagnostics
D) Treatment

A

A) PYGM gene, myophosphorylase defiicency

B) SECOND WIND phenomenon
Triggered by BRIEF exertion w/ ISOMETRIC contractions,
Exercise intolerance, contractures

C) Forearm ischemic exercise test: no increase in lactate

Bx: subsarcolemmal glycogen deposits

D) High protein, low-carb; sugars before exercise

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17
Q

Pompe Disease / Glycogen Storage Disease Type II

A) PP/Genetics
B) Clinical presentation
C) Diagnostics
D) Treatment

A

A) A-1,4 glucosidase (GAA) / Acid Maltase deficiency

B) Infantile - hypotonia, macroglossia, hepatomeg, cardiomeg, death

Juvenile (1st decade), Adult (3rd-4th d): proximal muscle weakness, respiratory muscle weakness

C) Vacuoles w/ glycogen and overreactive for acid phosphatase

D) Enzyme replacement therapy

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18
Q

Classify the following:

Pompe Disease
McArdle Disease
CPTII

A

Pompe Disease - Glycogen storage (type II)

McArdle Disease - Glycogenosis (type V)

CPTII - lipid metabolism disorder

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19
Q

Myotonic Muscular Dystrophies:

What are the two types?

A

DM1 - Steinert Disease

DM2 - Proximal myotonic myopathy

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20
Q

Myotonic Muscular Dystrophies:

What are the genetic abnormalities?

A

DM 1 (Steinert) - DMPK, CTG rpts

DM2 (Proximal myotonic myopathy) - ZNF9, CCTG rpts

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21
Q

Myotonic Muscular Dystrophies:

Myopathic features?
Systemic features?
Biopsy features? (type 1 vs type 2)

A

Myopathic:
1 - DISTAL wk, myotonia of hands, facial weakness, ptosis, temporal muscle wasting,
Adams: hatchet face, swan neck, foot drop

2- PROXIMAL wk, calf hypertrophy

Systemic:
FECCCCC (MC in DM1)

Frontal baldness
Endocrinopathies
Cataracts (posterior subcapsular)
Cardiac conduction defects, CM
Central sleep apnea
Cognitive dysfunction

Biopsy:
DM1 - type 1 fibers
DM2 - type 2 fibers

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22
Q

Myotonic Muscular Dystrophies:

Treatment?

A

Mexiletine

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23
Q

Myotonia Congenita

2 types?
Inheritance?
W/c is more common?

A

Thomsen myotonia - AD

Becker myotonia - AR, more common

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24
Q

Genetic abnormality in Myotonia Congenita?

Paramyotonia Congenita?

A

Myotonia Congenita
CLCN1

Paramyotonia Congenita
SCN4A

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25
Q

Onset < 20 y

Progressive external ophthalmoplegia

Proximal muscle weakness

A/F: retinitis pigmentosa, conduction defects, short stature, hearing loss, dementia, ataxia, endocrine d/o

A

Kearns-Sayre Syndrome

Single large mDNA mutation

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26
Q

Progressive external ophthalmoplegia

Sideroblastic anemia

Pancreatic dysfunction

A

Pearson Syndrome

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27
Q

Which inflammatory myopathy is associated with interstitial lung disease? What are the antibodies implicated?

A

Dermatomyositis

Anti-Jo 1 antibodies
antisynthetase syndrome

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28
Q

Which inflammatory myopathy is associated with autoimmune diseases such as Sjogren, SLE, Raynaud?

A

Dermatomyositis

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29
Q

What are the muscle biopsy findings for

Dermatomyositis
Inclusion body myositis
Polymyositis

A

DM - Perifascicular atrophy, perimysial inflammatory reaction

IBM - red-rimmed vacuoles on GTS

PM - CD8 lymphocytes, endomysial inflammatory reaction

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30
Q

W/c inflammatory myopathy presents w/ EMG: mixed myopathic + neurogenic findings?

A

IBM

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31
Q

W/c inflammatory myopathy is most a/w CA?

A

Dermatomyositis

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32
Q

Which medication can cause a mitochondrial myopathy a/w ragged red fibers?

A

Zidovudine (AZT)

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33
Q

Statin-induced myositis is a/w reduced levels of ____

Genetic abnormality?

A

CoQ10

SLCO1B1 gene

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34
Q

Which LGMD affects titin?

A

LGMD 2J

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35
Q

This part of the sarcomere is responsible for stabilization and length determination of thin filaments. It spans the entire structure of thin filaments

A

Nebulin

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36
Q

Maintains structural integrity of sarcomere during both active and relaxed states

A

Titin

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37
Q

Where is the M line located?

A

Center of the A band

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38
Q

Where are titin filaments located?

A

Z disk - M line

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39
Q

Area of overlap of actin and myosin filaments

A

A band

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40
Q

Area that includes only thin filaments

A

I band

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41
Q

Mechanical attachment between adjacent sarcomeres

A

Z disk

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42
Q

Region containing only myosin filaments

A

H zone

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43
Q

Genetic abnormality in Nemaline Rod Myopathy

A

Nebulin (NEM2)
a-Tropomyosin

Coflin-2
B-Tropomyosin

Ryanodine Receptor
Troponin T1
a-actin

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44
Q

Congenital myopathy presenting as facial weakness, high-arched palate, and high pedal arches

A

Nemaline Rod Myopathy

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45
Q

Myotubular Myopathy

MC genetic abnormality and pattern of inheritance?

Common time of onset?

A

MTM1 gene, X-linked

In utero onset
Myotubularin impt for differentiation in late myogenesis

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46
Q

This disease can present with congenital absence of a muscle (amyoplasia of one pectoral, brachioradialis, or biceps femoris)

A

Facioscapulohumeral Muscular Dystrophy (DUX4 mutation)

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47
Q

First manifestations are difficulty raising the arms above the head and winging of the scapulae

Deltoids remain large and strong

Angel-wing appearance - scapulae are winged and elevated

Popeye effect - upper arm may be thinner than the forearm

A

FSHD

48
Q

A group of muscles, after a series of strong contractions, remain shortened for many mins bec of failure of metabolic mechanism necessary for relaxation.

A

True physiologic contracture

49
Q

Muscle and tendon shortening following prolonged fixation and inactivity of the normally innervated muscle (ex. Broken limb immobilized).

A

Pseudocontracture / Myostatic or Fibrous contracture

50
Q

Another form of fibrous contracture found in newborns.

A

Arthrogryposis

51
Q

Condition where there are repeated twitching and rippling of a muscle at rest

A

Myokimia

52
Q

Infectious myopathy presenting with weakness of the EOMs, tongue, masseter, pharyngeal muscles, proximal limb muscles, diaphragm, myocardium

“Puffy face + tender muscles”

A

Trichinosis

53
Q

Which infectious myopathy can present with “dramatic pseudohypertrophy of thigh and calf muscles”?

A

Cysticercosis

54
Q

Which of the following is TRUE regarding HIV myositis?

A) Painful weakness of the girdle and proximal limb muscles
B) Reflexes are not affected
C) EMG shows active myopathy (fibrillations, brief polyphasic motor units, complex repetitive discharges)
D) Presence of nemaline (rod) bodies within type 2 fibers
E) No medications are known to be effective. PT and supportive care are the cornerstones.

A

True: C) EMG shows active myopathy (fibrillations, brief polyphasic motor units, complex repetitive discharges)

  • PAINLESS weakness of the girdle and proximal limb muscles
  • Reflexes are DIMINISHED
  • Presence of nemaline (rod) bodies within type ONE fibers
  • CORTICOSTEROIDS are effective in ameliorating the weakness
55
Q

Which of the following is NOT known to cause sporadic myositis w/ rhabdomyolysis?

A) Echo 9
B) Dengue
C) Adenovirus 21
D) Herpes simplex
E) EBV
F) Coxsackievirus
G) M. Pneumoniae
A

B) Dengue

56
Q

Which of the following is TRUE regarding Dermatomyositis?

A) More common in older people aged 50 and above, more commonly males
B) Gottron papules are found over the flexor surfaces of the joints
C) Usual mode of onset is painful weakness of proximal limb muscles (hips, thighs)
D) Ocular muscles are involved
E) Distal muscles (forearm, hand, leg, and foot) are spared in 75% of cases

A

True: E) Distal muscles (forearm, hand, leg, and foot) are spared in 75% of cases

  • DM affects children = adults. Adults: Women > Men, Children: Women = Men. Age 30-60. Peak incidence15 years “in a smaller group”
  • Gottron papules are found over the EXTENSOR surfaces of the joints
  • Usual mode of onset is PAINLESS weakness of proximal limb muscles (hips, thighs)
  • Ocular muscles are NOT AFFECTED
57
Q

Carcinoma is associated with which inflammatory myopathies?

A

Dermatomyositis > Polymyositis

58
Q

Which neoplastic processes are linked most often with myositis?

A) In men
B) In women

A

Men: lung, colon CA

Women: breast, ovarian CA

59
Q

Which of the following is not part of the synthetase syndromes (associated with DM)?

A) Interstitial lung disease
B) Arthritis
C) Uveitis
D) Raynaud syndrome
E) Mechanic’s hands
A

C) Uveitis

60
Q

True or false. Serum CK levels tend to be higher in DM than PM

A

False. CK levels are higher in PM than DM.

61
Q

In necrotizing inflammatory myositis, a proportion of patients display antibodies to ______, the target of statin drugs.

A

HMGCR

62
Q

Location of inflammatory infiltrates in

DM
PM

A

Dermatomyositis: PERImysium

Polymyositis: ENDOmysium

63
Q

In which inflammatory myositis can you find microvascular changes in muscle?

A

Dermatomyositis

64
Q

In which inflammatory myopathy can you find immune complexes, IgG, IgM, C3, and MACs deposited in the walls of venules and arterioles?

A

Dermatomyositis

65
Q

In which inflammatory myopathy can you see activated T cells (CD8) and sparse B cells?

A

Polymyositis

66
Q

Differentiate types of immune responses responsible for DM and PM

A

DM: Humoral

PM: Cytotoxic

67
Q

Which of the following is TRUE regarding Inclusion Body Myositis?

A) Most common in pts older than 50 years, Females > Males (3:1)
B) Associated with diabetes, autoimmune diseases, and polyneuropathy
C) Selective weakness of the deltoids, sparing of the thumb flexors
D) Knee jerks are depressed once quadriceps atrophy becomes severe
E) CK is greatly elevated

A

True: B) Associated with diabetes, autoimmune diseases, and polyneuropathy

  • Most common in pts older than 50 years, MALES > females (3:1)
  • Selective weakness of the THUMB FLEXORS, sparing of the DELTOIDS
  • Knee jerks are depressed EVEN WITHOUT quadriceps atrophy
  • CK is normal or SLIGHTLY elevated
68
Q

IBM diagnostics:

EMG findings?
Histopathologic findings?
Cytosolic antibodies implicated?

A

EMG findings?
Myopathic (like PM) + Neuropathic (due to chronicity)

Histopathologic findings?
Rimmed vacuoles. Intracytoplasmic, subsarcolemmal vacuoles, eosinophilic inclusions in cytoplasm and nuclei of degenerating muscle fibers.

Cytosolic antibodies implicated?
Anti-cN1, NT5C1A

69
Q

When is DMD usually recognized? (Adams)

A

3rd year of life

Always before the 6th year

70
Q

Which of the following is NOT true of DMD?

A) Foot-drop and toe-walking are due to weakness of the iliopsoas, quadriceps, and gluteal muscles w/c are involved first
B) The waddle is the result of bilateral weakness of the gluteus medius
C) Oral, facial, bulbar, and hand muscles are involved later on in the disease
D) The habitual posture for DMD is lumbar lordosis, hip flexion and abduction, knee flexion, and plantar flexion
E) Death is usually the result of pulmonary infections
F) Average IQ is 85

A

C) Oral, facial, bulbar, and hand muscles are involved later on in the disease

  • these are usually spared
71
Q

What is the largest gene known to humans?

A

Dystrophin gene

72
Q

What is the consequence of dystrophin pathology?

A

Renders sarcolemma susceptible to breaks and tears during contraction.

73
Q

What are the genetic abnormalities implicated in Emery-Dreifuss Muscular Dystrophy?

A) X-linked (MC)
B) AD
C) X-linked

A

A) X-linked: EMD (emerin)
B) AD: Laminin A/C
C) X: linked: FHL-1

74
Q

What is the distinguishing feature of the most typical form of Emery-Dreifuss MD?

A

Early appearance of contractures in the flexors of the elbow, extensors of the neck, and posterior calf muscles.

75
Q

Most common form of limb-girdle dystrophy in patients of Northern European descent.

A

LGMD 2I (FKRP, Fukutin Mutation)

76
Q

What is the mutation in LGMD2I?

A

FKRP, Fukutin mutation

77
Q

True or false. IN LGMD2I, a period of stabilization lasting several to 35 years is common, followed by a decade or more of progression that eventually involves the shoulder muscles.

A

True.

78
Q

Which LGMDs are considered sarcoglycanopathies?

A

LGMD 2 C, D, E, and F

79
Q

This accounts for 40% of pts with LGMD
The abnormal gene codes for which protease?
What is the clinical presentation that permits distinction from the sarcoglycanopathies?

A

LGMD2A

Calpain

Achilles tendon contractures, very high CK levels

80
Q

What is the abnormality in LGMD2B?
This is also involved in the distal form of which muscular dystrophy?
What are clinical clues that can point towards this disease?

A

Dysferlin (muscle fiber membrane)

Distal form of Miyoshi muscular dystrophy

Early involvement of the gastrocnemius (inability to tiptoe)

81
Q

What is the protein abnormality in LGMD 1A?
Main clinical characteristics?
Allelic to a form of?

A

Myotilin

Proximal leg weakness, elevated CK

Myofibrillar myopathy

82
Q

LGMD 1B is caused by mutations in the gene encoding which nuclear membrane protein?

A

Lamin A/C

83
Q

Age at onset of Oculopharyngeal Dystrophy (PABPN1 mutation)

A

After the 45th year

84
Q

For Miyoshi Dystrophy:

Mutation?
Onset?
Presentation?
Association?

A

DYSF (dysferlin)
*dysferlin - Ca-mediated membrane repair

Onset - early adult life

Presentation - weakness, atrophy of leg muscles - distal (peronea, gastroc, soleus)

LGMD2B

85
Q

Gene/protein abnormality for Merosin deficiency

A

LAMA2/Merosin

86
Q

True or false. In Merosin deficiency, cognitive function is affected.

A

False

87
Q

Seizures are common in the following EXCEPT:

A) Merosin deficiency
B) Fukutin CMD
C) Muscle-eye brain disease
D) Walker-Warburg disease

A

A) Merosin deficiency

88
Q

Gene/protein abnormality for Rigid spine syndrome

A

SEPN1/Selenoprotein

89
Q

Gene/protein abnormality for Muscle-eye brain disease

A

POMGnT1I / N-acetyl-glucosaminyl-transferase

90
Q

Gene/protein abnormality for Walker-Warburg disease

A

POMT1 / O-Mannosyl-transferase 1

91
Q

What has been found to increase muscle mass in patients with myotonic dystrophy?

A

Testosterone

92
Q

Pattern of inheritance for the glycogenoses?

A

Autosomal Recessive

93
Q

True or false. Patients with Pompe disease are suscptible to general anesthesia

A

True

94
Q

What is the most common form of Pompe disease?

A) Infantile form
B) Juvenile form
C) Adult form

A

A) Infantile form

95
Q

Which glycogen storage myopathy can present with pseudomyotonia on EMG?

A

Pompe Disease

96
Q

What is Tarui Disease?

A

Phosphofructokinase deficiency

Ashkenazi Jewish men

97
Q

Name the Glycogenosis:

Hepatomegaly, myopathy
Hallmark: basophilic PAS (+) polysaccharide granules in skin and muscle

A

Type IV glycogenosis
Andersen disease
Branching enzyme deficiency

98
Q

Glycogenosis that is inherited as a sex-linked recessive trait.
Hemolytic anemia, mental retardation, seizures, tremor.

A

Type IX glycogenosis
Phosphoglycerate kinase deficiency
PGK1 mutation

99
Q

Where are CPT I and II found?

A

CPTI - outer mitochondrial membrane

CPTII - inner mitochondrial membrane

100
Q

What is the mutation in Carnitine Palmitoyltransferase Deficiency?

A

CPT1A mutation

101
Q

Which is the most common type of Carnitine Palmitoyltransferase Deficiency?

A) Type I
B) Type IIA
C) Type IIB

A

A) Type I

102
Q

Which of the following is TRUE regarding Thyrotoxic Hypokalemic Periodic Paralysis?

A) Causes weakness of the muscles of the trunk and limbs, cranial muscles are involved
B) 1/2 have had hyperthyroidism, common in Asian males
C) Familial disorder
D) Mutation in KCNA1a

A

True: B) 1/2 have had hyperthyroidism, common in Asian males

  • Causes weakness of the muscles of the trunk and limbs, cranial muscles are NOT involved
  • NOT a familial disorder
  • Mutation in Kir2.6
103
Q

Which of the following is NOT prominent in Hypothyroid Myopathy?

A) Myospasm, Myokimia
B) Slowness of contraction and relaxation phases of tendon reflexes
C) Percussion myoedema
D) Weakness

A

D) Weakness

104
Q

What kind of steroids are more likely to cause myopathy?

A

Fluorinated

105
Q

The use of this medication is a factor in > 80% of critical illness myopathy cases

A

Neuromuscular blocking agents

106
Q

What is the identifying histologic feature in Critical Illness Myopathy?

A

Striking loss of thick (myosin) filaments

107
Q

What is the most important myopathic abnormality in hypo and pseudohypoparathyroidism?

A

Tetany (low iCal)

108
Q

Variants in this gene that codes for an organic anion-transporting polypeptide confers a risk of statin myopathy.

A

SLCO1B1

109
Q

Which of the following is TRUE of Colchicine myopathy?

A) Muscle biopsy shows elements of myopathic disease only
B) Rimmed vacuoles on gomori trichome stain on the periphery
C) Probably attributable to the drug’s effects on Tubulin
D) None of the above

A

True: C) Probably attributable to the drug’s effects on Tubulin

  • Muscle biopsy shows elements of myopathic and NEUROPATHIC disease
  • Rimmed vacuoles on gomori trichome stain that are more CENTRAL than those seen w/ IBM

D) None of the above

110
Q

What is the most common cause of Arthrogryposis?

A

Werdnig-Hoffman motor neuron disease

111
Q

Most common form of congenital clubfoot

A) Talipes equinus (plantar flexion of foot, ankle)
B) Talipes varus (inversion, clubfoot)
C) Talipes valgus (eversion, splayfoot)
D) Talipes calcaneus (dorsiflexion, ankle)

A

B) Talipes varus (inversion, clubfoot) - 75% of cases

112
Q

The following are seen in the “core” of Central Core Myopathy EXCEPT?

A) Dense, amorphous condensation of myofibrils/myofibrillar material
B) Lacks mitochondria, organelles
C) Reduced (+) PAS reaction
D) Dark blue coloration (Gomori trichome stain)
E) Blue-green color
F) Lack of phosphorylase and oxidative enzymes

A

E) Blue-green color - this is the normal color of the peripheral myofibrils

113
Q

What is the mutation associated with Nemaline myopathy?

A

ACTA1, AD

114
Q

Which is NOT true of Nemaline Myopathy?

A) Muscles of the trunk and limbs are strikingly thin and hypoplastic
B) Facial, lingual, pharyngeal muscles are spared
C) A slender appearance, narrow face, open mouth, narrow, arched palate, and kyphoscoliosis are often seen
D) Rods are composed of material that resembles that of Z bands under EM, often actin filaments are attached
E) Type 1 fibers are smaller than normal

A

B) Facial, lingual, pharyngeal muscles are also strikingly thin and hypoplastic

115
Q

Distinctive features of this congenital myopathy are ptosis and ocular palsies combined with weakness of facial, masticatory, lingual, pharyngeal, laryngeal, and cervical muscles in infants but not adults.

A) Central Core Myopathy
B) Nemaline Rod Myopathy
C) Centronuclear Myopathy
D) Myopathy with Tubular Aggregates

A

C) Centronuclear (Myotubular) Myopathy

116
Q

What is seen in the EMG of Centronuclear Myopathy?

A

Myopathic pattern (usual) + positive sharp waves and fibrillation potentials, abundant spontaneous activity

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