(9.1) Myopathies & Muscular Dystrophy Flashcards
What does myopathy mean?
is a muscular disease in which the muscle fibres do not function, resulting in muscle weakness
What is the pathological process in the muscle for myopathy?
- proximal to distal
What are signs of an acute myopathy?
- tender, swollen, weak muscle
- skin overlying swollen, erythematous, acute inflamm
What are signs of chronic myopathy?
- progressive weakness, wasting, fatigability
- connective tissue and fibre changes
- muscle cramps, stiffness & spasm
How does a myopathy usually present itself (5)?
- weakness predominantly proximally
- motor delay
- reduced muscle strength and power
- myalgia may occur in inflamm myopathy
- variation of strength with exercise
What is myotonic dystrophy?
- classified as MD or NM disorder
- affects small muscles (face, jaw, neck, hands)
- affect both men and woman
- genetic autosomal dominant condition
What does myotonic dystrophy mean?
“muscle” “spasm” “bad” “nourished”
What are the two types of Type 1 myotonic dystrophy (aka Steinert disease)?
- Congenital form
- symptoms at birth - Adult form
- muscle weakness
- fascial muscles
- distal hand muscles
- muscles lower leg
What are the symptoms of Type 2 myotonic dystrophy?
- typically milder
- proximal muscles of hip and thigh
- shoulders & elbows
What are muscular dystrophies?
- group of genetically determined disorders
- progressive degeneration group muscles
- distinguished by age of onset & rate of progression
What is Becker muscle dystrophy?
rare, inherited condition that causes muscle weakness that gets worse overtime
What is the Ax for Becker muscle dystrophy?
- Timed Up and Go
- 10m run/walk
- squat/rise through half kneeling
- pain Ax
What is Duchenne muscular dystrophy (DMD)?
- most common genetic myopathy
- DMD gene on short arm X chromosone
- 1/3500 male births
What are investigations performed in patients with DMD (5)?
- family Hx
- observation abnormal muscle function
- genetic and muscle biopsy testing
- ECG
- clinical observation
What is the NM and Skm Ax in DMD?
- strength
- ROM
- timed testing
- ADLs Ax
- Ax motor function
What is the clinical presentation of DMD (8)?
- 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
What are signs and symptoms of DMD (9)?
- 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
What are learning and behaviour risks of DMD (5)?
- speech delay & difficulty
- learning to read
- problems counting
- short term & working memory
- emotion control
What is involved in rehab management for DMD (7)?
- ROM & strength
- Posture & gait
- Function
- Stretching
- Positioning
- Aids
- Orthoses
What is involved in the physio Ax for DMD (7)?
- muscle strength & joint range
- posture/deformity
- resp status
- functional ability
- exercise tolerance
- pain & fatigue
- impact on family & home
What is the North Star Ambulatory Assessment?
rating scale that measures changes in motor performance in ambulant children with DMD
What is the Egen Klassification scale?
functional Ax tool designed to evaluate the abilities and limitations of individuals with mobility impairments
What are the guides for scores when using the 6MWT in DMD?
- > 400 metres = unlikely deteriorate in a short span
- <230 = likely lose ambulation ~2 years
What is seen in standing posture in DMD?
- anterior pelvic tilt
- lumbar lordosis
- foot equinus
- neck hyperextension
What is seen in sitting posture in DMD?
- anterior pelvic tilt
- lumbar lordosis
- flat thoracic / hyper extended spine
- equinovarus feet
- hip abduction
What are the aims of treatment in DMD?
- preservation of optimal function
- advice functional activities
- limit contractures
- promote mobility
- manage resp
- QOL
What are red flag activities for DMD?
- high resistance training
- jumping on a trampoline
- walking down hills
- use of scooters
- AFO’s during the day
What are suitable exercises for DMD?
- normal that dont cause >fatigue
- non weight bearing in water or bike
- low load
- all conducted within fatigue levels
Why do we stretch in DMD?
- prevents scar tissue from “firming” in shortened position
- maintain symmetry
- prolongs walking ability
- comfort
- maintain length in muscle that are tight
What does a physio intervention for DMD look like?
- hydrotherapy
- school advice re mobility
- transfers
- resp function (posture, NIV, expansion and clearance)
- ADL
What is spinal muscular atrophy?
A genetic neuromuscular disorder that affects motor neurons in the spinal cord causing progressive muscle degeneration and weakness
What is the clinical presentation of SMA?
- lower motor signs
- symmetrical weakness
- proximal > distal weakness
- pelvic girdle > shoulder
What can be seen in SMA Type 1?
- symptoms after first few months of life
- most severe form
- usually death before 2 yrs
What can be seen in SMA Type 2?
- symptoms between 7-18mnths
- children never able stand unaided
What can be seen in SMA Type 3?
- symptoms after 18 months
- reduced walking ability over time
- life expectancy normal
What can be seen in SMA Type 4?
- symptoms appear adulthood
- not life threatening
What is Ax for SMA?
- functional scale
- joint range and muscle power
- spinal posture
- resp Ax
- eating and drinking Ax
- SMA 3 use 6MWT
