Muscles and duchenne muscular dystrophy Flashcards

also anatomy of lower leg and foot (105 cards)

1
Q

What is dorsiflexion

A

Angling the foot up

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2
Q

What is plantar flexion

A

Angling the foot down

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3
Q

What are the three superficial posterior leg muscles

A

gastrocnemius, soleus, plantaris

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4
Q

What are the three deep posterior leg muscles

A

tibialis posterior, flexor digitorum longus, flexor hallucis longus

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5
Q

What are 4 anterior leg muscles

A

tibialis anterior, extensor hallucis longus, extensor digitorum longus, fibularis tertius

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6
Q

what are the two lateral leg muscles

A

fibularis longus, fibularis brevis

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7
Q

what is the name of the true ankle joint

A

talocrural joint

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8
Q

what is the name of the subtalar joint

A

talocalcaneal

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9
Q

functions of the talocrural joint

A

dorsi and plantarflexion

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10
Q

functions of the subtalar joint

A

eversion and inversion

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11
Q

common insertion of superficial posterior leg muscles

A

calcaneal tuberosity via calcaneal tendon

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12
Q

common innervation of superficial posterior leg muscles

A

tibial nerve (S1-S2)

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13
Q

common action of superficial posterior leg muscles

A

plantar flexion of ankle joint

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14
Q

common innervation of posterior deep leg muscles

A

tibial nerve (L4-S3)

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15
Q

common action of posterior deep leg muscles

A

inversion and weak plantar flexion

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16
Q

common innervation of anterior leg muscles

A

deep fibular nerve (L4-S1)

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17
Q

common action of anterior leg muscles

A

dorsiflexion

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18
Q

distal attachment of fibularis longus

A

attaches medially

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19
Q

common innervation of lateral leg muscles

A

superficial fibular nerve (L5-S2)

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20
Q

common action of lateral leg muscles

A

eversion and weak plantarflexion

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21
Q

what are the 3 muscular compartments of the ankle retinacula

A

flexor, extensor and fibular

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22
Q

what are the 4 named parts of the medial (deltoid) ligament of the ankle

A

tibiocalcaneal part
tibionavicular part
posterior tibiotalar part
anterior tibiotalar part

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23
Q

what are the 3 named parts of the lateral ligament of the ankle

A

anterior talofibular
calcaneofibular
posterior talofibular

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24
Q

functions of the food arches

A

provide shock absorption and act as springboards

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25
what are the 3 foot arches
medial longitudinal lateral longitudinal transverse
26
what provides passive support of the foot arches
bones and ligaments
27
what provides dynamic support of the foot arches
muscles and tendons
28
innervation of the anterior/flexor compartment of the thigh
femoral nerve
29
innervation of the posterior/extensor compartment of the thigh
sciatic nerve
30
innervation of the medial/adductor compartment of the thigh
obturator nerve
31
innervation of the anterior/extensor compartment of the leg
deep fibular nerve
32
innervation of the posterior/flexor compartment of the leg
tibial nerve
33
innervation of the lateral/evertor compartment of the leg
superficial fibular
34
nerve roots of the lateral cutaneous nerve of the thigh
L2-3
35
nerve roots of the super fibular nerve
L4-S5
36
nerve roots of the deep fibular nerve
L4-S2
37
nerve roots of the common fibular nerve
L4-S2
38
nerve roots of the tibial nerve
L4-S3
39
nerve roots of the nerve to obturator internus
L5-S2
40
nerve roots of the sciatic nerve
L4-S3
41
nerve roots of the inferior gluteal nerve
L5-S2
42
nerve roots of the nerve to quadratus femoris
L4-S1
43
nerve roots of the superior gluteal nerve
L4-S1
44
nerve roots of the saphenous nerve
L3-4
45
nerve roots of the femoral nerve
L2-L4
46
nerve roots of the obturator nerve
L2-4
47
nerve roots of the nerve to piriformis
S1-2
48
nerve roots of the posterior cutaneous nerve of the thigh
S1-3
49
What is the symbol for a male on a pedigree
Sqaure
50
What is the symbol for a female on a pedigree
Circle
51
What is the symbol for someone deceased on a pedigree
(subsequent circle or square) with a line through it diagonally
52
What is the symbol for affected on a pedigree
Coloured in
53
What is the symbol for a carrier on a pedigree
half coloured in
54
What is the symbol for a female carrier (x linked recessive) on a pedigree
small black dot in the middle of a circle
55
what is "proband" on a pedigree
an arrow pointing to the individual who brought the genetic disease into light ie, a child with down's syndrome
56
what is a consultand on a pedigree
the individual enquiring about the pedigree/being genetically tested represented by the letter C on the chart
57
What is the symbol for a consanguineous relationship on a pedigree
two lines between two individuals
58
What is the symbol for a divorce on a pedigree
diagonal line through the marriage line
59
What is the symbol for a pregnancy on a pedigree
a diamond
60
What is the symbol for a miscarriage on a pedigree
a small black dot
61
What is the symbol for identical twins on a pedigree
a line between the triangle of twins
62
What is the symbol for non-identical twins on a pedigree
both children stemming from one point to form a triangle
63
what is a simple genetic pattern of inheritance
the ones we learned in school chromosomal autosomal recessive/dominant x linked recessive x linked dominant y linked
64
what is a complex genetic pattern of inheritance
multiple genes + environmental factors (part genetic or multifactorial) multiple genes +/- chromosomal abnormalities (cumulative genetic)
65
what is 'knight's move' on a pedigree
two males related through an unaffected female (only males affected) - x linked recessive, female has extra X chromosome to protect her
66
What are myofibrils mad eup of
repeating units called sarcomeres
67
what is a muscle fibre made of
a bundle of myofibrils
68
what is a fascicle made of
a bundle of muscle fibres usually 10-12 covered by perimysium
69
what is the epimysium
connective tissue surrounding the entire muscle
70
what is the perimysium
connective tissue surrounding the bundles of muscle fibres
71
what is the endomysium
connective tissue surrounding individual muscle fibres
72
where are the capillaries in muscles
between and surrounding individual myofibers separated from myofibers by the interstitial space
73
what is the sarcolemma
membrane that covers a muscle fiber
74
describe the shape of a myofibril
repeating unit of sarcomeres responsible for muscle contraction rod shaped organelles
75
what is a sarcomere
basic unit of muscle generates force and contracts made up of thick and thin protein filaments giving muscle its striped appearance
76
what are the thick filaments
mysoin
77
what are the thin filaments
actin
78
function of the z disc
anchors thick and thin filaments to elastic filaments
79
function of M line
transverse structure that marks the centre of sarcomere and links myosin.
80
4 ways muscle is affected in DMD
Muscle damage Muscle inflammation Atrophy and Hypertrophy Fibre replacement
81
What form of inheritance is DMD
X-linked recessive inheritance 50% of male offspring will be affected 50% of female offspring will be carriers
82
describe DMD progression
Sequential, Non-linear and irreversible
83
what is the median age for motor milestone
the age at which half of children acquire a certain skill
84
what is the limit age for motor milestone
the age by which 97% of children have achieved a certain skill
85
clinical features of DMD between birth to 18 months
No concerns during pregnancy or at birth delayed motor milestones might be reported not independently walking by 18 months
86
clinical features of DMD between age 2-3
enlarged calf muscles frequent falls tiredness/fatigability delayed motor milestones learning difficulties
87
clinical features of dmd between age 3-4
difficulties in running and climbing stairs struggle to get up from floor (Gower's maneuver) frequent falls struggling to jump persistent tip-toe walking
88
what is positive gowers sign
when lying in supine position the child must turn over and walk their hands to their feet in order to get up
89
what is the mnemonic to aid DMD diagnosis
M - motor milestone delay U - unusual gait S - speech delay C - creatine kinase asap L - leads to E - early diagnosis DMD
90
how is creatine kinase affected in DMD
it leaks out of muscle if there is damage
91
treatment options for DMD
no cure steroid therapy to dampen down muscle inflammation - prednisolone, deflazacort
92
what causes DMD
Defect in the dystrophin gene Any mutations that disrupt the reading frame or point mutations that generate a premature stop codon disrupts the dystrophin protein translation, leading to DMD
93
function of atalauren
enables ribosome read through of premature stop coding to allow protein synthesis to occur as normal
94
What is compartment syndrome
when the pressure within a muscle compartment is so high that blood perfusion is no longer possible - no blood flow = muscle death
95
possible causes of compartment syndrome
- fracture - crush injury - revascularisation - fluid infusion - arterial rupture - snake bite
96
5 P's (signs) of vascular injury (limb ischaemia)
Pain pulselessness pallor paresthesia perishing cold
97
describe pain of compartment syndrome
out with expectation massive analgesic use on passive movement of muscle in compartment - unbearable pain
98
examination of compartment syndrome in lower limb
wiggling big toe measuring pressure
99
how to fix compartment syndrome
slice open the skin and fascia overlying the entire length of the compartment to relieve the pressure skin sometimes cannot then be closed so a skin graft is often needed
100
what are the three types of motor units in human muscle
Type 1 - Slow contracting - Oxidative Type 2a - Intermediate - Mixed Type 2b/x - Fast contracting - Glycolytic
101
summarise energy sources at max effort
ATP stores and Phosphocreatine deplete in a few seconds Anaerobic glycolysis can contribute for a few minutes; Type 2b fibres Aerobic metabolism dominates after 3-5 minutes; Type 2a and Type 1 fibres
102
what are the two forms of fatigue
peripheral and central
103
describe peripheral fatigue
within muscle fibres failure of excitation-contraction coupling failure of force generation at cross bridges failure of ATP generation by depletion of energy stores
104
describe central fatigue
within the nervous system loss of excitability of motor cortex reflex inputs from 'metabo-receptors' in muscle
105