Neuroprogressive Disorders Flashcards
(17 cards)
What do neurodegenerative muscle disorders affect and what is the primary disability?
Affect synapse and muscle fibres
muscle weakness is the primary disability
Pathophysiology of Neurodegenerative muscle disorders
Genetic disorders at synapse and muscle fibres lead to:
- loss of structural proteins in muscle
- defects of production of enzymes
- defect of sarcolemma’s repairing mechanisms
Management of neurodegenerative muscle disorders
No cure
MDT involvement
Continuous monitoring as symptoms are variable and deterioration can occur rapidly
early intervention
Education
Aim to improve quality of life and mobility
Education for patient with neurodegenerative muscle disorder
Understand condition
Set realistic expectations: outline typical milestones and reassure them that although there is no cure yet, there are treatments to slow decline and enhance quality of life
Energy conservation and pacing - smaller and more consistent activities are going to better than one big exhausting session
Safe exercise - short bouts of low to moderate aerobic work - walking, swimming, cycling, ROM, stretching
Stretching and positioning - gentle stretching, night splints/AFOs help avoid muscles becoming tight (contracture)
Physio role in neuroprogressive disorders
Exercises shouldn’t cause pain - important to train at right intensity. Don’t want exercise to cause pain, cramping or excessive fatigue. E.g. ROM exercises, stretching, low impact workouts
Supportive bracing: AFOs
Work with OT for assistive technology, wheelchair prescription and set up
MDT for neuroprogressive disorders
Doctors
Respiratory and cardiology: lung volumes, cough peak flow, echo or cardiac MRI
OT: home, school, work mods, powered chairs, devices
Speech and dietetics: swallow safety, food, tube feeding
Psychology/social work: coping skills, mental health, support packages
Physio Ax of Neuroprogressive Disorders
want to monitor frequently as symptoms can change quickly and deterioration can happen rapidly
Common symptoms
- motor
- muscle strength (MMT)
- muscle endurance (6MWT, 10MWT, 30s STS)
- ROM
- Monitor deformities (scoliosis, scap winging, hyperlordosis)
- Fatigue (Fatigue Severity Scale, VAFS)
- Resp (ABGs, SaO2, Spiro, Inspiratory muscle strength)
- balance (Berg balance)
Activity limitations
- Functional independence measure (FIM). Looks at measures of independence across various tasks
- Scales for ADLs, independence
- Motor function measure (MFM - muscle dystrophies)
Participation restrictions
- assessment of QoL and community participation (SF-36, WHO-QoL, Community integration questionnaire)
Difference between Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Different conditions caused by a mutation to the same gene with similar signs and symptoms
Becker has milder disease progression
Duchenne muscular dystrophy overview
Mostly male affected (X-linked recessive)
Onset: 2-5 years and picked up if child is late to walk
Starts at hip and trunk (proximal to distal)
Pseudo hypertrophy on plantarflexors, quadriceps and deltoids (fat and connective replace muscle)
Waddling gait
Rapidly progressive decline in mobility, contractures and scoliosis
Gower’s sign: unusual way of standing up from floor (use of upper limb to compensate for weak lower limb)
Duchenne ICF
Impairments
- muscle weakness (proximal to distal)
- muscle contracture
- scoliosis
- respiratory function
- balance and gait impairments
- loss of gait at 10-12 y/o
Activity limitations
- stair climbing
- walking
- loss of gait at 10-12 y/o
- running
- jumping
- hopping
- sitting
Participation restrictions
- playing sports
- work
- school mobility
- travel
- engaging in community
Ax of someone with Duchenne Muscular Dystrophy
Objective
- MMT
- ROM (contracture)
- Neuro exam
- Functional capacity - 6MWT, TUG, 30s STS
- Spirometry
- Gower’s sign test
- Gait Ax
- Blood and genetic testing
- muscle biopsy
Treatment for Duchenne Muscular Dystrophy
No cure - focus on managing symptoms and improving QoL
Corticosteroids to manage symptoms
Light intensity aerobic exercise - cycling, swimming
Daily stretch program
BRAFO for night time
Splints to stretch UL and LL
Facioscapulohumeral Dystrophy overview
weakness of facial muscles, scapula stabilisers, weak traps, upper arms and lower legs
both sexes affected
onset in adolescence
mild and slow progression - heart not involved so more normal longevity
kyphotic so important to look at respiratory function yearly
ICF for Facioscapulohumeral Dystrophy
Impairments
- Weakness of scapula stabilisers, facial muscles, upper arm, lower legs
- scapula dyskinesis
- weak abdominals which leads to hyperlordosis
- bulbar: salivation and difficulties communicating + swallowing
- vision
Activity limitations
- self care
- overhead movements (ADLs)
- reaching (+/- manipulation)
- communication
- coordination
- bed mobility + transfers due to upper arm weakness
- sitting balance due to weak abdominals and LL weakness
Participation restrictions
- sports
- family involvement
Ax of Facioscapulohumeral Dystrophy
Observation - posture + AROM
Gait - foot drop / LL weakness
Genetic testing - DUX4 gene
Functional tests - TUG, bicep curl, wall push up, abduction
Respiratory and cardiac Ax - routine pulmonary function testing
Treatment of Facioscapulohumeral Dystrophy
Exercise: mindful not to cause pain, cramping, excessive fatigue
ROM and stretching exercises
Low impact exercise - Swimming or water based exercise
bracing
Chest physio
Arm cycling
Work with OT regarding assistive technology
Limb Girdle Muscular Dystrophy overview
Group of disorders that share a core phenotype - progressive weakness of the pelvic and shoulder girdle muscles with relative sparing of facial and distal limb muscles in early course
both sexes affected
onset adolescence or childhood
mild progression
Affects
- hip girdle: glute max, iliopsoas, quads
- shoulder girdle: traps, serratus anterior, latissimus dorsi, rhomboids, pec major
- cardiac impairment
Gradual loss of strength at hip and shoulder
waddling or lordotis gait
scapula winging/poor overhead reach
positive trendelenburg and Gower’s sign (difficulty rising)
Contractures
scoliosis
