Neurodegenerative Diseases Flashcards by Emily Renner

disorders with primary pathology affecting any part of the motor unit from the anterior horn cell out to the muscle

neuromuscular disease

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a group of muscle diseases that are genetic in nature

muscular dystrophy - type of neuromuscular disease

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steady, progressive degenerative course

neuromuscular diseases

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how to classify neuromuscular diseases

microscopic evaluation of muscle tissue as well as clinical presentation (distribution of weakness, mode of inheritance, pathologic findings)

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a group of proteins that link sub-sarcolemmal cytoskeleton and extracellular matrix with the contractile apparatus of the muscle cell membrane

dystrophin-glycoprotein complex (DGC)

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what is the gene for duchenne muscular dystrophy (DMD)

dystrophin-glycoprotein complex (DGC)

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what are duchenne muscular dystrophy (DMD) and becker muscular dystrophy (BMD)

dystrophinopathies

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in DMD, dystrophin is

absent

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in BMD, dystrophin is

deficient

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limb girdle muscular dystrophy (LGMD) are known as _____, and sarcoglycan proteins are

sarcoglycanopathies
deficient

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another name for duchenne muscular dystrophy

pseudohypertrophic muscular dystrophy

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progressive MD; Dystrophinopathy in which children become weaker and eventually die due to respiratory failure

DMD

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what is DMD linked to

x-linked inheritance pattern - M get disease from mom

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how to confirm DMD

lab studies and muscle biopsies

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what is abnormally high in DMD

serum creatine kinase (CK)

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findings in muscle biopsy for DMD

degenerating and regenerating fibers
inflammatory infiltrates
increased connective tissues and adipose cells
immunohistologic staining - absence of dystrophin

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absence of dystrophin in DMD leads to disruption of linkage between

cytoskeleton and extracellular matrix

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lack of dystrophin leads to

sarcolemmal instability and increase in susceptibility of microtears

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what exacerbates microtears in DMD

muscle cx

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when is onset of DMD

2-3 y/o

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sx of DMD

reluctance to walk, falling, difficulty getting off floor, toe walking

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what age can a child with DMD typically ambulate to

9-10 y/o or more with steroids

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pseudo-hypertrophy of weak muscles common in

DMD - calf muscles

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does weakness progress with DMD

yes

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what muscles typically become weak earliest in DMD

proximal muscles

what causes exaggerated lumbar lordosis in DMD

weak hip and knee extensors

_____ is a compensation by the child to attempt to align the center of gravity anterior to the fulcrum of the knee joint and posterior to the fulcrum of the hip joint in DMD

lordosis

describe BOS, gait pattern and other key characteristics of DMD

- wide BOS - ER/toe out - waddling gait pattern - ITB contractures - gower's sign

contractures with DMD progression

- typically PF, inversion - hip flexion - knee flexion (in WC) - elbows, shoulders, long finger flexors

DMD most kids are able to walk, climb stairs, and stand up from floor until what age and then will see rapid decline in function

6-7

when is loss of unassisted ambulatory function seen in kids with DMD

9-10

any kid who remains ambulatory after age 13 is considered to have

BMD or an intermediate phenotype

used to assess function

functional ability grading system (UE and LE)

mildest of x-linked progressive dystrophies

BMD

ambulation till what age with BMD

16 or slightly beyond

slower breakdown of muscle than DMD --> some dystrophin produced

BMD

when is BMD present

5-15

what is intermediate MD

loss of ambulation between 13-16th birthday

life expectancy of BMD

body structures impaired with BMD

- scoliosis - respiratory involvement - GI system - cardiac - cognition

what is often the cause of death in BMD

respiratory involvement --> nocturnal hypoventilation

interventions for MD

- flexibility - stretching - bracing/night splints - serial casting - prolong functional capacity - no aggressive strengthening - NO ECCENTRICS - sub max endurance training (no post exercise soreness, pool or bike, concentric exercises) - assistive technology - adaptive equipment

autosomal dominant disorder to chromosome 19

myotonic dystrophy

sx typically seen during adolescents with myotonia (delay in muscle relaxation time, muscle weakness)

myotonic dystrophy (DM1)

c/o of myotonic dystrophy

weakness and stiffness

characteristics of myotonic dystrophy

- a characteristic long thin face with temporal and masseter muscle wasting, frontal balding, wasting of SCM - Distal wasting and weakness, foot drop, difficulty opening jars

Progressive muscular dystrophies that affect proximal musculature

LGMD

onset of LGMD

variable, child to adulthood

Interneuron abnormality and loss of anterior horn cells

SMA

what are the 3 types of SMA based on

maximal ability of child

child never learned to sit

SMA type I

child learns to sit but never learns to walk w/o AD

SMA type II

child walks independently

SMA type III

SMA genetics

- Autosomal recessive inheritance pattern - Gene defect on 5q13 - Both copies of SMN1 gene in each cell have mutations - Survival motor neuron (SMN) is located here

SMA

survival motor neurons

associated with diminished levels of SMN and loss of motor neurons

SMA

EMG shows diminished action potentials

SMA

muscle biopsies show small atrophic fibers interspersed with groups of large hypertrophic fibers

SMA

are the lack of innervation to the motor unit

atrophic fibers

all kids with SMA have

absent DTRs, sensation intact as is cognition

Werdnig-Hoffman Disease

SMA type I

noted in first 3 months of life, decreased movements in womb, axial hypotonicity, difficulty feeding

SMA Type I

head lag pull to sit, drape over hand in landau, legs in abd/flex (froglegged), arms move with elbows on support surface

SMA type I

cannot maintain head in midline, limited ability to take food by mouth, limited respiratory function, paradoxical pattern of breathing, pulmonary infections

SMA type I

survival age SMA type I

less than 2 years without aggressive pulmonary management

when does SMA Type II present by

Presents later in 1st year of life

Can sit but cannot pull to stand Proximal weakness, wasting of extremities and trunk musculature Fasciculations of tongue common Resting tremors Delay in acquisition of gross motor skills

SMA type II

Prone and quadruped most difficult due to inability to control head Contracture formation at knee flex, PF, elbow flexors and wrist flexors Pts might walk but not independently, use bracing or AD Ambulation not usually functional for short distances KAFOs for standign programs

SMA type II

75% of SMA type II can sit until ____ and 50% can sit until ___

7 14

survival SMA type II

into adulthood but susceptible to pulmonary infections

Kugleberg-welander disease

SMA III

Progressive weakness, absent reflexes, fasciculations

SMA type III

presentation onset SMA type iii, what age correlated to poorer outcomes

- toddlers to adulthood (adulthood = type IV) - < 2 onset = poor

SMA interventions/tx

Develop sequencing/facilitation/handling Strengthening!! ROM/splinting positioning/adaptive equipment (wedges/towel rolls, slings/springs, switch toys) Power mobility (18mo - 2 y/o) Bath equipment

why can you strength with SMA

bc due to lack of innervation, NOT muscle destruction

hereditary motor and sensory neuropathy; caused by mutations in genes that produce proteins responsible for structure/function of peripheral N axon or myelin sheath

charcot-marie-tooth (CMT) disease

nerves slowly degenerate, resulting in muscle weakness and atrophy, and reduced ability to feel heat, cold and pain

charcot-marie-tooth (CMT) disease

typical features charcot-marie-tooth (CMT) disease

foot drop (hallmark); high stepped gait; high arches; hammertoes; later onset of muscle atrophy in hands (fine motor deficits); onset of sx is adolescents or early adulthood; progression gradual; typical life expectancy