LOTS to read --ABP Content Specs #9: Motor Disabilities Flashcards
Spasticitiy?
-hypertonia elicited when muscles are rapidly and passively extended across a joint
-velocity-dependent increase in tone
-“catch and release” quality
-spasticity isn’t elicited when stretched slowly
S/s of spastic CP?
-spasticity
-hyperreflexia
-clonus
-positive Babinski reflex (extensor plantar response)
-diminished voluntary muscle control and strength
-often global hypotonia in early phase; have hypotonia in neck and trunk while spastic in extremities
-lesions in brain are large and extend beyond just the periventricular areas
Associated features of quadriplegic spastic CP?
-central hypotonia, spasticity in extremities
-seizures
-ID
-nonverbal
-difficulty feeding/swallow
-breathing issues
-contractures
*most severe type of spastic CP
*think term infants w/ history of profound HIE and extreme premature infants with grade IV bilateral IVH with subsequent PVL
Diplegic spastic CP?
-spasticity in all four limbs BUT lower extremities much more affected than upper extremities
-lesions in brain usually in periventricular white matter
-better outcomes than spastic quadriplegia
-not as common to have seizures or other medical issues
-good prognosis for cognitive skills
-might be able to ambulate if able to sit by themselves at age 2 years
*most often due to central brain bleed (e.g. IVH in premature infant with resultant PVL)
Hemiplegic spastic CP?
-motor issues on ONE side of body
-about 1/3 of CP cases
-brain: unilateral motor cortex and responsible for contralateral signs
-usually arm more than leg affected; mostly fine motor issues
-decorticate posturing of affected arm is often seen
-most kids can walk but some gait abnormalities (internal rotation of leg, toe walking on affected side)
-no effect on cognition
Dyskinetic CP (extrapyramidal)?
-involving areas of outside of motor pyramidal tracts
-occurs due to brain regions that regulate motor coordination and tone (e.g. cerebellum, basal ganglia, thalamus)
s/s of dyskinetic CP?
-variable tone
-hypertonia is reduced in times of sleep or relaxation
-motor coordination issues
-involuntary movements: seen in shoreoathetoid form of dyskinetic CP
chorea: quick, jerking movements
-athetosis: slow, writhing movements
-arms, trunk, and face mostly involved in abnormal movements
Peripheral nerve damage= neuropathy
-etiologies?
-due to nerve damage/injury, medications, systematic diseases like:
diabetes, vitamin deficiencies (Vitamin B1, B12, copper, or vitamin E and Vitamin B6 deficiency due to TB treatment with isoniazid)
-get motor sxs like weakness, impair coordination, sensory (tingle/numbness)
Meds for spasticity?
-oral meds:
1. baclofen, benzo (gaba agonists)
2. dantroline (calcium release inhibitor)
3. clonidine, tizanidine (alpha-2 adrenergic agonists)
4. gabapentin (increase gaba in brain)
side effects for meds for spasticity?
sedation, drowsy, weakness
-low evidence for oral meds
abrupt withdrawal of baclofen: pruritus, increase in spasticity, hallucinations, confusion, seizures
botox injections for spasticity in CP?
-used for neuromuscular blockade
-easy to admin, low risk sode effects, rapid onset of action
-interferes with relase of acetylcholine at NMJ
-lasts up to 3 months
-reduce spasticity and functional improvement in both upper and lower extremities
-also intrathecal injection of baclofen; gaba agonist with site of action at spinal cord
-given by continuous infusion pump
GMFCS (gross motor function classication system) for CP?
Level 1: walks without restrictions, limitations in advanced skills only
Level 2: walks without assistive devices, limited outdoors/community mobility
Level 3: walks with assistive mobility devices; limited outdoors/community mobility
Level 4: self-mobility with limitations; transported in wheelchair or use power mobility in outdoors/community
Level 5: self mobility is self limited, even with use of assistive technology
What is myelodysplasia?
-a developmental anomaly of the spinal cord
-high prevalence of hydrocephalus and Chiari malformation in children with myelodysplasia
hydrocephalus: excess build up of CSF in brain
a chiari malformation can block the normal flow of fluid and lead to obstructive or non-communicating hydrocephalus
hydrocephalus can occur with any type of chiari malformation but mostly with Type II
What is chiari type 1?
-when lower part of cerebellum (cerebellar tonsils) extend into foramen magnum
-usually only spinal cord passes through this opening and not the brain
-might not cause any sxs; most common type
What is chiari type II?
-more severe than type I
-usually start in childhood
-life-threatening complications
-called classic CM
-both the cerebellum and brain stem protrudes through foramen magnum
-usually accompanied by myleomeningocele; usualy get partial or complete paralysis of area below spinal opening
-usually see multiple ventricular anomalies (4th ventricle is small, aqueduct is small, third ventricle gives shark-tooth deformity, lateral ventricle can be normal or severely deformed/hydrocephalic)
What is chiari type III?
-most severe form of CM
-cerebellum and brain stem stick out or herniate through abnl opening in back of skull
-appears in infancy and life-threatening
-can have severe mental and physical delays, seizures
What is chiari Type 4?
incomplete or underdeveloped cerebellum (cerebellar hypoplasia)
-rare
-cerebellum is in normal position but parts of it was missing
What is chiari type 0?
-usually have syringomelia despite lack of cerebellar tonsil herniation
-have minimal or no herniation of cerebellar tonsils through foramen magnum
-get occipital HA
What prenatal meds increase risk of spina bifida?
valproic acid, carabamazepine, isotretinoin, methotrexate, folid acid antagonists, excess Vitamin A, retinoic acid
What are muscular dystrophies?
-inherited group of progressive myopathic disorders resulting from defects in a number of genes requires for normal muscle function
-primary sxs: muscle weakness
-9 major forms of muscular dystrophy
-
Duchenne muscular dystrophy feature?
X-linked recessive disorder affect skeletal nad cardiac muscle
-affects dystrophin (a glycoprotein structure of muscle sarcolemma)
-membrane instability leads to muscle damage; get inflammation and lead to muscle damage, necrosis and fibrosis
Progressive nature of Duchenne muscular dystrophy in boys?
-muscle affected at birth; see sxs of proximal muscle weakness at age 3-5 years
-proximal muscles happen first
-walk later than siblings at age 18 months
-toe walking common
-short stature
-awkard running, jumping, hopping or impossible
-develop lumbar lordosis and Trendelenburg fait
-fall often and difficulty getting up
-to raise themselves up will need to get into knee-elbow position and “climb up their legs”; doing Gower maneuver
-use wheelchair by age 8-12 years
-in mid-teens will lost ability to feed and care for themselves
-decreased lung function at age 9 -11 years
-calf muscle pseudohypertrophy
Behavioral/developmen issues in Duchenne muscular dystrophy?
-motor and lanugage delay
-1/4 of boys have Autism
-learning disabilities in 50%
-no progressive worsening of cognitive skills
-more risk for anxiety, ADHD, and OCD
Becker’s muscular dystrophy (BMD)?
-X-linked muscular dystrophy disorder
-due to mutation in DMD gene
-milder course
-manifests later in life; loss of ambulation in 30-40’s
-average cognition
-elevated serum CK levels 5x/normal
-will eventually have dilated cardiomyopathy
Limb Girdle Muscular Dystrophy
-proximal muscle weakness
-includes several heterogenous genetic disorders (duchenne, bekcer’s, myotonic dystrophy, fascioscapulohumeral muscular dystrophy)
Facio-scapulo-humeral muscular dystrophy (FSHD) features?
-3rd most common type of muscular dystrophy
-muscle weakness with facial, scapular, upper arm, lower leg, and abdominal muscles w/ asymmetric involvement
-age of onset: infancy to middle age, usually in 20’s
-normal life span
-can also get chronic pain, retinal vasculopathy, progressive hearing loss, cardiac arrhythmia, cognitive impairment, epilepsy
*suspect in patients who have relative selective weakness of face and shoulder girdle muscles, usually of scapular fixators and scapular winging
Myotonic Dystrophy features?
-most common form of ADULT-onset MD
-2 forms: DM 1 and DM2
Myotonic dystrophy type 1 (DM 1)?
-skeletal muscle weakness and myotonia (abnormal slow or delayed muscle relaxation following normal muscle contraction with neurophysiological signature on EMG testing), cardiac conduction abnormal, cataracts
Congenital myotonic dystrophy (DM1)
due to expansion of CTG (cytosine-thymine-guanine) trinucleotide repeat in 3’ untranslated region of dystrophia myotonica protein kinase (DMPK) gene
-get profound hypotonia, facial diplegia, poor feeding, arthrogryposis (congenital joint contractures) of legs and respiratory failure
-areflexia, V’shaped upper lip from facial diplegia, facial weakness
-usualy need mechanical ventilation b/c of really bad respiratory function; might get asphyxia/ HIE on MRI, polyhydramnios and prolonged labor
Walker-Warburg syndrome?
-type of congenital muscular dystrophy with ocular dysplasia, hydrocephalus, and cerebral malformations
-aka “cerebro-ocular dysplasia”
-ocular issues: cataracts, optic nerve hypoplasia, corneal clouding, retinal detachment
-serum CK is mild to moderately elevated
-brain MRI has hypodense WM, hypoplastic cerebellum, pons, dilated ventricles, cobblestone brain malformation (Type II lissencephaly)
-others malformation: Dandy-walker cyst, posterior encephaloceles
-get gene mutation in POMT1, POMT2, etc.
Muscle-eye-brain disease
-milder than walker-warburg syndrome
-lots in Finland
-present with hypotonia, severe progressive myopia from infancy, DD
-pale retina, vision failure
-seizures
-severe cognitive
-at age 5 years, decline motor and develop contractures
-elevated serum CK
-EMG: myopathic findings and EEG abnormal
-brain MRI: cobblestone lissencephaly less severe than walker-warburg syndrome; brainstem is completely flat
