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Neuro > (9.1) Myopathies & Muscular Dystrophy > Flashcards

(9.1) Myopathies & Muscular Dystrophy Flashcards

1
Q

What does myopathy mean?

A

is a muscular disease in which the muscle fibres do not function, resulting in muscle weakness

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2
Q

What is the pathological process in the muscle for myopathy?

A
  • proximal to distal
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3
Q

What are signs of an acute myopathy?

A
  • tender, swollen, weak muscle
  • skin overlying swollen, erythematous, acute inflamm
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4
Q

What are signs of chronic myopathy?

A
  • progressive weakness, wasting, fatigability
  • connective tissue and fibre changes
  • muscle cramps, stiffness & spasm
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5
Q

How does a myopathy usually present itself (5)?

A
  • weakness predominantly proximally
  • motor delay
  • reduced muscle strength and power
  • myalgia may occur in inflamm myopathy
  • variation of strength with exercise
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6
Q

What is myotonic dystrophy?

A
  • classified as MD or NM disorder
  • affects small muscles (face, jaw, neck, hands)
  • affect both men and woman
  • genetic autosomal dominant condition
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7
Q

What does myotonic dystrophy mean?

A

“muscle” “spasm” “bad” “nourished”

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8
Q

What are the two types of Type 1 myotonic dystrophy (aka Steinert disease)?

A
  1. Congenital form
    - symptoms at birth
  2. Adult form
    - muscle weakness
    - fascial muscles
    - distal hand muscles
    - muscles lower leg
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9
Q

What are the symptoms of Type 2 myotonic dystrophy?

A
  • typically milder
  • proximal muscles of hip and thigh
  • shoulders & elbows
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10
Q

What are muscular dystrophies?

A
  • group of genetically determined disorders
  • progressive degeneration group muscles
  • distinguished by age of onset & rate of progression
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11
Q

What is Becker muscle dystrophy?

A

rare, inherited condition that causes muscle weakness that gets worse overtime

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12
Q

What is the Ax for Becker muscle dystrophy?

A
  • Timed Up and Go
  • 10m run/walk
  • squat/rise through half kneeling
  • pain Ax
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13
Q

What is Duchenne muscular dystrophy (DMD)?

A
  • most common genetic myopathy
  • DMD gene on short arm X chromosone
  • 1/3500 male births
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14
Q

What are investigations performed in patients with DMD (5)?

A
  • family Hx
  • observation abnormal muscle function
  • genetic and muscle biopsy testing
  • ECG
  • clinical observation
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15
Q

What is the NM and Skm Ax in DMD?

A
  • strength
  • ROM
  • timed testing
  • ADLs Ax
  • Ax motor function
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16
Q

What is the clinical presentation of DMD (8)?

A
  • muscle weakness (3-4yrs)
  • slow locomotor milestones
  • gradual onset
  • difficulty climbing stairs at 8
  • off feet age 7-12
  • decreased UL function
  • increased dependence
  • death when resp compromise
17
Q

What are signs and symptoms of DMD (9)?

A
  • waddling
  • increased lordosis
  • difficulty walking, running etc
  • use of arms getting up stairs or out of chair
  • GOWERS
  • Pseudohypertrophy of muscles
  • muscle weakness bilateral
  • prox > distal initially
  • toe walking to assist stability
18
Q

What are learning and behaviour risks of DMD (5)?

A
  • speech delay & difficulty
  • learning to read
  • problems counting
  • short term & working memory
  • emotion control
19
Q

What is involved in rehab management for DMD (7)?

A
  • ROM & strength
  • Posture & gait
  • Function
  • Stretching
  • Positioning
  • Aids
  • Orthoses
20
Q

What is involved in the physio Ax for DMD (7)?

A
  • muscle strength & joint range
  • posture/deformity
  • resp status
  • functional ability
  • exercise tolerance
  • pain & fatigue
  • impact on family & home
21
Q

What is the North Star Ambulatory Assessment?

A

rating scale that measures changes in motor performance in ambulant children with DMD

22
Q

What is the Egen Klassification scale?

A

functional Ax tool designed to evaluate the abilities and limitations of individuals with mobility impairments

23
Q

What are the guides for scores when using the 6MWT in DMD?

A
  • > 400 metres = unlikely deteriorate in a short span
  • <230 = likely lose ambulation ~2 years
24
Q

What is seen in standing posture in DMD?

A
  • anterior pelvic tilt
  • lumbar lordosis
  • foot equinus
  • neck hyperextension
24
Q

What is seen in sitting posture in DMD?

A
  • anterior pelvic tilt
  • lumbar lordosis
  • flat thoracic / hyper extended spine
  • equinovarus feet
  • hip abduction
25
Q

What are the aims of treatment in DMD?

A
  • preservation of optimal function
  • advice functional activities
  • limit contractures
  • promote mobility
  • manage resp
  • QOL
26
Q

What are red flag activities for DMD?

A
  • high resistance training
  • jumping on a trampoline
  • walking down hills
  • use of scooters
  • AFO’s during the day
27
Q

What are suitable exercises for DMD?

A
  • normal that dont cause >fatigue
  • non weight bearing in water or bike
  • low load
  • all conducted within fatigue levels
28
Q

Why do we stretch in DMD?

A
  • prevents scar tissue from “firming” in shortened position
  • maintain symmetry
  • prolongs walking ability
  • comfort
  • maintain length in muscle that are tight
29
Q

What does a physio intervention for DMD look like?

A
  • hydrotherapy
  • school advice re mobility
  • transfers
  • resp function (posture, NIV, expansion and clearance)
  • ADL
30
Q

What is spinal muscular atrophy?

A

A genetic neuromuscular disorder that affects motor neurons in the spinal cord causing progressive muscle degeneration and weakness

31
Q

What is the clinical presentation of SMA?

A
  • lower motor signs
  • symmetrical weakness
  • proximal > distal weakness
  • pelvic girdle > shoulder
32
Q

What can be seen in SMA Type 1?

A
  • symptoms after first few months of life
  • most severe form
  • usually death before 2 yrs
33
Q

What can be seen in SMA Type 2?

A
  • symptoms between 7-18mnths
  • children never able stand unaided
34
Q

What can be seen in SMA Type 3?

A
  • symptoms after 18 months
  • reduced walking ability over time
  • life expectancy normal
35
Q

What can be seen in SMA Type 4?

A
  • symptoms appear adulthood
  • not life threatening
36
Q

What is Ax for SMA?

A
  • functional scale
  • joint range and muscle power
  • spinal posture
  • resp Ax
  • eating and drinking Ax
  • SMA 3 use 6MWT

Neuro (11 decks)

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