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Neuro RCM > Diseases of Muscle > Flashcards

Diseases of Muscle Flashcards

1
Q

Duchenne: Onset

A

childhood (weakness 5-12y)

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2
Q

Duchenne: Inheritance

A

X linked R

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3
Q

Duchenne: Prognosis

A

loss of ambulation (move: walk) in teen or early childhood

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4
Q

Duchenne: late in disease symptom

A

cardiomyopathy

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5
Q

Duchenne: Muscle Biopsy

A

dystrophic changes, dystrophin staining

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6
Q

Duchenne: Patient Symptoms

A

young boy usually, walking in the tip of his toes (corta el tendon de aquiles), inability to get up from the floor without help, normal developmental history

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7
Q

Duchenne: Clinical Presentations

A

Gower’s Sign and calf hypertrophy

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8
Q

Duchenne: CK levels

A

very high

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9
Q

Are myopathies accompanied by pain?

A

no

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10
Q

What sensory symptoms do myopathies present?

A

none

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11
Q

How are myopathies evaluated clinically? What tests?

A

muscle enzymes (CK), electromyography/nerve conductions, muscle biopsy, genetic testing

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12
Q

What type of molecules cause myopathies?

A

membrane proteins (such as dystrophin)

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13
Q

What is dystrophin?

A

muscle membrane structural protein

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14
Q

What mutations are seen in Duchenne? What type of mutations and what gene.

A

dystrophin, deletions (common) or duplications…non-sense, point mutation… spectrum of disease depending on mutation (unreadable gene or defetive protein)

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15
Q

Duchenne: elevated enzymes

A

CK, aldolase

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16
Q

Duchenne: treatment

A

corticosteriods; retard progression

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17
Q

Becker’s: molecular problem

A

dystrophin present but in reduced amount or defective form

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18
Q

Becker’s vs. Duchenne progression

A

Beckers is slower

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19
Q

Becker’s vs. Duchenne

A

Becker’s: cardiac involvment

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20
Q

Gene defects in muscle diseases

A

deletions, missense, base repeats, point mut, repeat of base seq, mito DNA deletion

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21
Q

Limb Girdle Myopathies: symptom

A

weakness in proximal muscles

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22
Q

Limb Girdle Myopathies: genetic mutation

A

wide spectrum of genetic etiologies and patterns of inheritance

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23
Q

Limb Girdle Myopathies: molecular problem

A

dysfunction of sarcolemal proteins

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24
Q

Limb Girdle Myopathies: genotype

A

dominant, recessive, X-linked

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25
Q

Limb Girdle Myopathies: age of onset

A

variable

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26
Q

Limb Girdle Myopathies: CK

A

elevated

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27
Q

Limb Girdle Myopathies: examples of muscle protein defects

A

alpha beta gamma sarcoglycan proteins, myofibrillar proteins, caveolins, dysferlin, dystrophin

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28
Q

Myotonic Dystrophy (DM1): genotype

A

AD, variable penetrance

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29
Q

Myotonic Dystrophy (DM1): chromo mutation

A

19th Chrm

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30
Q

Myotonic Dystrophy (DM1): genetic mutation

A

repeats in CTG seq

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31
Q

Myotonic Dystrophy (DM1): onset

A

earlier

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32
Q

Myotonic Dystrophy (DM1): 2 main clinical presentations

A
  • myotonic dystrophy (98%)

- proximal myotonia, mild or no weakness

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33
Q

Myotonic Dystrophy (DM1): symptoms

A

cramp-like phenomenon with involuntary persistent muscle contraction (myotonia)

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34
Q

Myotonic Dystrophy (DM1): protein damaged

A

DMPK (myotonin)

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35
Q

Myotonic Dystrophy (DM1): clinical vignette

A

39 yr old, elevated CK, no muscle weakness in normal tasks, difficulty with fine motor function, cramping of hands, elongated facies and early cataracts

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36
Q

Myotonic Dystrophy (DM1): EKG

A

asymptomatic right bundle branch block

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37
Q

Myotonic Dystrophy (DM1): muscles with weakness and atrophy

A

interossei and abductor pollicis brevis in both hands, wakenes of tibialis anterior limitng foot extension

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38
Q

Myotonic Dystrophy (DM1): classical symptom

A

handgrip and percussion shows slow release and persisten muscle contraction (myotonia)

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39
Q

Congenital Myopathies: 3 example of diesases

A

centronuclear (myotubular), nemaline (rod body), central core

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40
Q

Congenital Myopathies: description of umbrella

A

structural defects of muscle

41
Q

Congenital Myopathies: symptoms at birth

A

hypotonia, weak suck reflex, developmental delay

42
Q

Congenital Myopathies: definite diagnosis

A

mucsle biopsy or genetic testing

43
Q

Congenital Myopathies: differential diagnosis

A

developmental delay due to disorders of nervous system (genetic, metabolic, structural), cerebral palsy, spinal muscular atrophy (infantile), congenital myasthenic syndromes, metabolic muscle conditions

44
Q

Congenital Myopathies: histology slide characteristic

A

nucleo de celulas son centrales y no peripherales

45
Q

Duchenne: histological slide

A

extensive endomysial fibrosis between fibers, and centrally displaced nuclei, replacement of muscle by fat and CT

46
Q

Duchenne: atrophied muscles

A

hombro, pelvico y batata

47
Q

Diseases that atrophy the hamstring

A

Duchenne and Beckers

48
Q

Limb Girdle: body parts with dystrophy

A

faja pelvica y scapula salida

49
Q

Congenital Myopathies: pt clinical vignette

A

bebe, mother uneventful pregnancy, baby observed hypotonic, poor suck and weak limbs, weak cry, good patellar reflexes, normal metabolic and infectious evaluation, normal electroencephalogram and MRI

50
Q

Congenital Myopathies: CK level

A

normal

51
Q

Congenital Myopathies: electromyogram

A

normal

52
Q

Congenital Myopathies: nerve conduction studies

A

normal

53
Q

Metabolic myopathies: examples of diseases

A

thyroid myopathy, disordersof glycogen metabolism, lipid metabolism, mito disorders, ion channel disorders (hypo/hyperkalemic paralysis)

54
Q

Mc Cardle’s Disease: biological dysfunction

A

myophophorylase deficiency, ineffective glucose metabolism in muscle

55
Q

Mc Cardle’s Disease: symptoms

A

cramps, myalgias after exercise

56
Q

Mc Cardle’s Disease: CK level

A

elevated

57
Q

Mc Cardle’s Disease: microbiological effect of disease (what is in excess, what is scarce and when)

A

lactic acid fails to elevate after exercise, glycogen accumulation in muscle

58
Q

Mc Cardle’s Disease: enzyme dysfunction name and purpose

A

myophosphorylase deficiency (muscle isoform of glycogen phosphorylase), glycogen to glucose 1-P`

59
Q

Mc Cardle’s Disease: histological slide

A

glycogen accumulation

60
Q

Carnitine Deficiency: carnitine fxn

A

transport LCFA across mito membrane

61
Q

Mc Cardle’s Disease: biological dysfunction

A

ineffective lipid metabolism in muscle

62
Q

Mc Cardle’s Disease: what disorder commonly presents this deficiency?

A

mitochondrial disorders

63
Q

Mitochondrial Myopathies: inherintance

A

maternal, non-mendelian

64
Q

Mitochondrial Myopathies: symptoms

A

muscle frequently involved, external ophtalmoplegia (paralyisis of extraoccular muscles), systemic involvement

65
Q

Mitochondrial Myopathies: CK and lactic acid leves

A

elevated

66
Q

Mitochondrial Myopathies: clinical presentation in eyes (como se ven)

A

parpados caidos y los ojos no se mueven

67
Q

Mitochondrial Myopathies: histologicla slide

A

fibras desgeneradas y rojizas

68
Q

Mitochondrial Myopathies: diagnosis

A

mito genetic testing

69
Q

Mc Cardles: clinical vignette

A

19 yr old, severe muscle pain after beginning to workout at they gym, dark urine like coke for several days, muscle cramping after repeated actions (exercise)

70
Q

Mc Cardles: CK level

A

supremely elevated

71
Q

Mc Cardles: muscle strength

A

normal

72
Q

Inflammatory myopathies: examples of diseases

A

dermatomyositis (childhood and adult), polymyositis, inclusion body myositis

73
Q

Inflammatory myopathies: genetic?

A

no, acquired

74
Q

Inclusion body myositis age of onset

A

50yrs or more

75
Q

Inflammatory myopathies: etiology

A

autoimmune related

76
Q

Inflammatory myopathies: common symptom

A

inflammation of muscle

77
Q

Dermatomyositis: CK level

A

alto

78
Q

Dermatomyositis: key symptom

A

rash como psoriasis

79
Q

Inflammatory myopathies: histological slide

A

musculo saludable ha sido atacado, H&E: puntitos oscuros infiltrando

80
Q

Dermatomyositis: clinical symptoms

A

weakness in proximal more than distal muscles, bulbar 20%, muscle pain, tenderness, discomfort, muscle swelling, arthritis, arthralgias, malaise, contractures in some cases, vasculitis

81
Q

Dermatomyositis: systemic involvement

A

cardiac; arrhythmias, muscle…. pulmonary; interstitial ling disease complicates (10-20% of cases)… GI; motility… arthritis, vasculitis

82
Q

Dermatomyositis: pathophysiology

A

humoral-mediated microangiopathy

83
Q

Polymiositis: onset

A

adult 20 or more yrs

84
Q

Polymiositis: genetics

A

more common in females

85
Q

Polymiositis: symptoms

A

symmetric proximal weakness, swallowing 1/3rd of patients, muscle tenderness but not as prominent, occasional mild face weakness

86
Q

Polymiositis: muscle biopsy

A

muscle fibers: necrosis, variation in fiber size, inflammatory infiltrate, T cell/Macs on non-necrotic muscle cells, perimysial and endomysial infiltrate

87
Q

weakness in proximal more than distal muscles, bulbar 20%, muscle pain, tenderness, discomfort, muscle swelling, arthritis, arthralgias, malaise, contractures in some cases, vasculitis

A

Dermatomyositis

88
Q

young boy usually, walking in the tip of his toes (corta el tendon de aquiles), inability to get up from the floor without help, normal developmental history

A

Duchenne

89
Q

39 yr old, elevated CK, no muscle weakness in normal tasks, difficulty with fine motor function, cramping of hands, elongated facies and early cataracts

A

Myotonic Dystrophy

90
Q

19 yr old, severe muscle pain after beginning to workout at they gym, dark urine like coke for several days, muscle cramping after repeated actions (exercise)

A

Mc Cardles

91
Q

bebe, mother uneventful pregnancy, baby observed hypotonic, poor suck and weak limbs, weak cry, good patellar reflexes, normal metabolic and infectious evaluation, normal electroencephalogram and MRI

A

Congenital Myopathies

92
Q

Parents bring a 6-year-old boy to the pediatrician
concerned about frequent walking in the tip of his toes and more recently inability to get up from the floor without help. The boy refuses to climb stairs asking to be carried up by the parents. Developmental history is completely normal with normal motor milestones attained before the present symptoms appeared. On examination, the child has a Gower’s sign and calf hypertrophy is observed. There are mild contractures of the Achilles’ tendon. The pediatrician refers the patient to a pediatric neurologist and obtains a Creatine Kinase (CK) level. The pediatrician receives a call from the local laboratory when the result of this test reveals a CK level of 18,950 IU (normal up to 350).

A

Duchenne

93
Q

A 39-year-old woman is referred to a
neurologist when her primary physician found
a Creatine Kinase of 1,200 IU (normal up to
250IU) on a routine laboratory evaluation.
Upon questioning the patient denies weakness
in talks as getting up from chairs, climbing
stairs or drying her hair with a blower. She
however has observed difficulty buttoning her
garments and writing in the computer. She also
describes frequent “cramping” of the hands.
On examination, mild weakness and atrophy of
the interossei and the Abductor Pollicis Brevis
is identified in both hands. She also has
weakness of the Tibialis Anterior limiting her
foot extension. Handgrip and percussion
shows slow release and persistent muscle
contraction. She has elongated facies and early
cataracts. An EKG obtained by her primary
physician showed an asymptomatic Right
bundle branch block.

A

Myotonic Dystrophy

94
Q

A 56 year-old woman previously in good health
began six months ago with muscle aches,
slowness climbing upstairs, difficulty keeping
her arms up hanging clothes and in the last
week became unable to rise from the toilet
requiring the help of her sister. She has also
observed a rash in her chest and knuckles and
was told this might be psoriasis by a friend.
She had an initial evaluation by a local
physician who suspected she might be
developing “fibromyalgia” reason for which the
doctor referred her to a neurologist and a
rheumatologist. On her initial visit with the
neurologist she was brought in a wheelchair
since she could only take steps. Her laboratory
studies showed the following results: CK 8,406
(normal up to 250), ANA 1:320 (antinuclear
antibody), sedimentation rate 66.

A

Dermatomyositis

95
Q

A baby girl is born form a healthy 26-year-old
mother with an uneventful pregnancy. The
baby is observed to be hypotonic (“floppy”)
with poor suck and weak limbs. Cry is also
weak. Patellar reflexes are present. A
metabolic and infectious evaluation is normal.
Electroencephalogram and MRI of the brain
are also normal. CK is 500 (normal up to 500
IU). Cell count and Chemistries are also
normal. An electromyogram and nerve
conduction studies do not reveal any definite
abnormalities. The neurology service is
consulted for further evaluation.

A

Congenital Myopathies

96
Q

A 19 year-old man in good health is referred to his
physician after he developed severe muscle pain after
beginning to workout in the gym. He gives history of
passing dark urine like “Coca-cola” for several days.
Routine laboratory tests showed a CK of 19,506.
Several weeks later CK had returned to almost normal
levels (500 IU). Examination was normal including
muscle strength. The patient gave history of muscle
cramping after repeated actions such as biceps curls
or using a wrench. He described that after few
minutes of such actions he develops cramps in the
muscles used.

A

Mc Cardles

97
Q

What procedures are useful when evaluating a patients with muscle diseases?

A

clinical history, examination of muscle strength and fxn, examination of family members, genetic tests, nerve conduction and electromyography, CK levels, and muscle biopsy

98
Q

Important clnical tests to diagnose muscle diseases:

A

CK levels, electromyography and nerve conductions, muscle biopsy, and genetic tests

99
Q

Herediatry Muscle Disorders:

A

duchennes, myotonic dystrophy, and limb girdle muscular dystrophy

Neuro RCM (2 decks)

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