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Enumerate Levine's Diagnostic Criteria for Cerebral Palsy
- 1. Posture and movement patterns
- 2. Oral motor patterns
- 3. Strabismus
- 4. Tone of muscles
- 5. Evolution of landmarks and postural reactions
- 6. Reflexes (deep tendon, infantile)
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Most common antecedent for CP spastic diplegia
Prematurity (<37 weeks)
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Kernicterus triad
- 1. Athetosis
- 2. Irreversible sensorineural hearing loss
- 3. Parinaud's disease (paralysis of upward gaze)
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Cushing's triad
- 1. Cheyne-Stokes (irregular) respiration
- 2. Bradycardia
- 3. Hypertension (increased SBP)
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Other name for cerebral palsy
Little's Disease
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Intraventricular hemorrhage grading: isolated to germinal matrix
Grade I
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Topographic classification of CP: cannot be classified into diplegia or quadriplegia
Triplegia
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CP type in which visual impairments (e.g. strabismus) are common
Spastic diplegia
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Molnar prognosticating index (good)
Walk, sit, crawl, primitive reflexes
- 1. Spastic CP walks by 3 years old
- 2. Sits by 2 years old
- 3. Crawls on hands and knees by 1.5-2
- 5 years old
- 4. Absence of primitive reflexes by 18-24 months
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Warning signs of spina bifida occulta
- 1. Pigmented nevus (cafe au lait spot)
- 2. Hirsute's patch or Faun's beard
- 3. Dimple or dermal sinus overlying skin
- 4. Angioma
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Ultrasound finding in spina bifida
Lemon sign
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Neural tube normally closes at
28th day of gestation
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ACM type I
Kinking of ventricles
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Neurologic level of spina bifida associated with kyphoscoliosis
T6-T12
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Hydrocephalus triad
- 1. Sun set eyes
- 2. Cracked pot sign
- 3. Cushing's triad
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CP type with straphanger appearance
Spastic quadriplegia
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MC mixed type of CP
Spastic athetoid
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Normal ICP for neonates
60 mmHg (40-50 ml)
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Bleck's ambulation status criteria
- (-) Moro reflex
- (-) ATNR
- (-) STNR
- (-) Stepping reflex
- (+) Parachute reflex
- (-) Extensor thrust
- (-) Neck righting reflex
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MC level of spina bifida occulta
L5-S1
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Associated malformation of spina bifida which is an abnormal attachment of spinal cord at the distal end due to pulling of cauda equina or conus medullaris
Tethered cord
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Displacement of cerebellum caudally with elongation and kinking of ventricles
Arnold-Chiari malformation
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Neurologic level of spina bifida associated with severe hip dislocation
L1-L3
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Neurologic level of spina bifida associated with sphincter control problems
S3-S5
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MC complication of shunt
Obstruction and infection
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MC orthopedic deformity in spina bifida
Foot deformity (pes equinovarus)
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MC cause of death in spina bifida
Hydrocephalus and renal failure
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MC form of hydrocephalus associated with spina bifida
Communicating, obstructive hydrocephalus with type 2 ACM (herniation of midbrain and pons at posterior cranial fossa)
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Type 3 ACM
Occipitocervical myelomeningocele
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Type 4 ACM
Atrophy of cerebellum
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MC knee deformity in spina bifida
Knee flexion contracture (due to prolonged sitting)
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Failure of closure of posterior element of spine
Spina Bifida
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Neurologic level of spina bifida associated with mild hip dislocation and calcaneovalgus
L4-L5
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Neurologic level of spina bifida associated with calcaneovarus
S1
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Neurological level of spina bifida associated with claw toes
S2
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Associated malformation of spina bifida which is defined as presentation of dysplastic neural tissue at the surface of the sac
Myeloschisis
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Associated malformation with spina bifida which is a cystic defect communicating with central canal of spinal cord
Myelocystocoele
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Associated malformation of spina bifida which is defined as fats within the central canal of the spinal cord
Lipomeningocoele
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Associated malformation of spina bifida which are split cords with separate meningeal coverings
Diplomyelia
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Associated malformation of spina bifida which is a post neurolation defect in the sagittal cleft of the spinal cord
Diastematomyelia
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Associated malformation of spina bifida which is tubular cavitation in the spinal cord parenchyma lined with glial cells
Syringomyelia
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Associated malformation of spina bifida which is a tubular cavitation extending to the brainstem
Syringobulbia
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Etiologies of spina bifida
- 1. Heat exposure (maternal fever, high environmental temperature)
- 2. Environment (maternal obesity, low socioeconomic status, mid spring conception)
- 3. Exposure to anticonvulsants (Valproic acid and Carbamazepine)
- 4. Metabolic (folic acid deficiency)
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Bleck's ambulation status: (+) Parachute reflex, ATNR and Moro
Poor
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Bleck's ambulation status: (+) parachute, (-) primitive reflexes
Good
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Resulting bladder dysfunction in spina bifida if lesion is proximal to conus medullaris
Urinary incontinence (due to spastic or reflexogenic bladder)
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Resulting bowel dysfunction in spina bifida
Patulous anus, perianal sensory deficits, absence of cutaneous reflexes
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Parapodium + THKAFO; wheelchair for ALL functional mobility
T6-T12
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RGO + HKAFO; wheelchair for most functional mobility; short household ambulation; standing and walking for physiologic benefits
L1-L2
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Orthosis recommended for L3-L4 spina bifida
KAFO
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Functional prognosis of L3-L4 spina bifida
Household ambulation with limitation
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Orthosis and functional prognosis of L4-S1 spina bifida
AFO + ground reaction force; household and community ambulation with limitation
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Foot/supramalleolar orthosis; household and community ambulation without limitation
Below S1
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Trigonocephaly (premature fusion of forehead), cleft palate, clenched fist, microphthalmia, seizure, heart problems, hearing impairment
Patau's Syndrome (Trisomy 13)
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Small mouth and jaw, small and abnormally shaped head, fluctuating muscle tone, skeletal malformation
Edward's Syndrome (Trisomy 18)
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Flat occiput, flat nasal bridge, upward epicanthal fold, atlantoaxial instability, ligamentous laxity, hypotonia, mental retardation, simian crease, short stature
Down Syndrome (Trisomy 21)
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XO chromosome leading to broad chest with wide set nipples, amenorrhea, absence of ovaries, webbed neck deformity (pterygium colli), and short stature
Turner's (superwoman) Syndrome
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XXY chromosome leading to narrow shoulders, gynecomastia, wide pelvis, and undescended testes but normal cognition
Klinefelter Syndrome
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Deletion of material in the short arm of chromosome 5 leading to hypotonia in infancy, microcephaly, hypertelorism, and high pitched cry
Cri-du-chat Syndrome
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Involves chromosome 15 leading to insatiable appetite, overeating, malignant obesity, and type 2 DM
Prader Willi Syndrome
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Gene locus for Duchene and Becker muscular dystrophy
xp21.2
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Age of onset of DMD
3-5 years old
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Common contractures seen in DMD
- 1. Ankle plantarflexors
- 2. Knee flexors
- 3. Hip flexors
- 4. ITB
- 5. Elbow flexors
- 6. Wrist flexors
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ECG abnormalities in DMD
- 1. Q waves in lateral leads
- 2. Elevated ST segments
- 3. Poor R wave progression
- 4. Resting tachycardia
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Age of onset of BMD
10-15 years old
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Emery-Dreifuss Muscular Dystrophy triad
- 1. AV block
- 2. Progressive muscle weakness
- 3. Early muscle contracture (hallmark: elbow flexion; others: ankle equinus, rigid spine, and neck extension)
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Muscles spared in FSHMD
- 1. Deltoids
- 2. Pharyngeal muscles
- 3. Extraocular muscles
- 4. Masseter
- 5. Temporalis
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Mildest form of muscular dystrophy
Fascioscapulohumeral Muscular Dystrophy (Dejerine-Landouzy)
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Muscular dystrophy in which facial muscles are spared
Limb Girdle Muscular Dystrophy
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Muscular dystrophy resulting from defect on dysferlin and sarcoglycans
Limb Girdle Muscular Dystrophy
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Inheritance pattern of LGMD type 1
Autosomal dominant
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Inheritance pattern of LGMD type 2
Autosomal recessive
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Gene locus for type 1 EDMD
xq28
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Gene locus for type 2 EDMD
Lamin A/C (1q21.2-3)
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Gene loci for myotonic muscular dystrophy
- Type 1 (Steinert's Disease): 19q13.3 (dystrophia myotonia protein kinase)
- Type 2 (Proximal Myotonic Myopathy): 3q21 (zinc finger protein 9)
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Decrease in acid maltase
Pompe's Disease
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Decrease in de Brancher enzyme
Cori's Disease
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Enzyme decreased in Tarui's Disease?
Phosphofructokinase
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Enzyme decreased in Von Gerke's Disease
Glycogen phosphorylase
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Decrease in liver phosphorylase
Hers Disease
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Decrease in muscle phosphorylase
McArdle's Disease
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Enzyme decreased in Andersen's Disease
Brancher
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Congenital myopathy associated with grip and paradoxical myotonia
Paramyotonia Congenita (Eulenberg's Disease)
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Congenital myopathy associated with tightness and hypertrophy of all major muscle groups
Myotonia Congenita (Thomsen's Disease, Infantile Herculinism)
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Autosomal dominant congenital myopathy associated with floppiness, congenital hip dislocation, proximal muscle weakness, malignant hyperthermia when receiving general anesthesia, lack of mitochondria in core of muscle cells upon light microscopy
Central Core Disease
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Gene locus of central core disease
19q13.1
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Muscular dystrophy not associated with cardiac abnormalities
Fascioscapulohumeral Muscular Dystrophy
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Onset of type 1 LGMD
2nd-3rd decade
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Triad of myotonic muscular dystrophy
- 1. Delayed muscle relaxation
- 2. Stiffness triggered by cold
- 3. Myotonic phenomenon
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MC motor disability of childhood
Cerebral Palsy
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2nd MC motor disability of childhood
Spina Bifida
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According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women of childbearing age should take each day?
0.4 mg/day
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According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with previous NTD pregnancy should take each day?
4 mg/day one month prior to conception AND through the first trimester
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According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with high risk pregnancies (e.g. taking Valproic acid, has maternal diabetes) should take each day?
4 mg/day
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Type of spina bifida that can have associated tethered cord with development
Occulta
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MC type of spina bifida
Meningomyelocele
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Type of spina bifida associated with hydrocephalus and Chiari type 2 malformations
Meningomyelocele
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Absence of sacrum and portions of lumbar spine associated with maternal diabetes
Caudal Regression Syndrome
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Associated findings of caudal regression syndrome
- 1. Syringomyelia
- 2. Anorectal stenosis
- 3. Renal abnormalities
- 4. External genital abnormalities
- 5. Cardiac problems
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Most common clinical signs and symptoms of tethered cord
- 1. Spasticity in lower extremities
- 2. Decline in lower extremity strength
- 3. Worsening scoliosis
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Spinal cord segment typically affected in syringomyelia
Cervical
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Most severe symptom of Chiari type II malformation
Respiratory compromise
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Signs of increased ICP with open fontanelles
- 1. Lethargy
- 2. Decreased feeding
- 3. Bulging fontanelles
- 4. Increased head circumference (greater than expected for age)
- 5. Poor developmental progress
- 6. Sun downing
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Signs of increased ICP with closed fontanelles
- 1. Headache
- 2. Drowsiness
- 3. Vomiting
- 4. Changes in behavior and personality
- 5. Irritability
- 6. Diplopia
- 7. Papilledema
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Substance to which individuals with spina bifida are allergic
Latex
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Depression formed between hypertrophied posterior deltoid and infraspinatus in children with DMD
Posterior axillary depression sign
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First ECG abnormality to appear in children with DMD
Q waves in lateral leads
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Facial muscles initially affected in FSHMD
- 1. Orbicularis oculi
- 2. Orbicularis oris
- 3. Zygomaticus
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Common feature is disruption of sarcolemmal membrane cytoskeleton
Sarcoglycanopathies (LGMD 2C-2F)
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Skeletal muscle protein localized in muscle cell membrane
Dysferlin
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Congenital muscular dystrophy which presents in infancy with severe hypotonia, weakness, and wasting of face and limbs, occasional spasticity, large cheeks, kyphoscoliosis, microcephaly, seizures, severe mental retardation, and progressive hydrocephalus
Fukuyama Congenital Muscular Dystrophy
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Congenital muscular dystrophy with less prominent muscle involvement but leads to blindness at birth and early death
Walker-Warburg Syndrome
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Congenital muscular dystrophy caused by collagen VI abnormality (absent in skeletal muscles and capillaries)
Ullrich Congenital Muscular Dystrophy
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Early onset FSHD that presents in infancy and has a fairly rapid progression; associated with sensorineural hearing deficit and progressive exudative telangiectasia
Coates Syndrome
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Elicited by percussion of thenar eminence with a reflex hammer, giving an adduction and flexion of the thumb with slow return
Percussion myotonia
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Delayed opening of the hand with difficult extension of fingers following tight grip
Grip myotonia
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Presents in infancy and inherited as an autosomal-dominant condition; there is an abnormality of muscle chloride channel
Myotonia Congenita (Thomsen's Disease, Infantile Herculinism)
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Reduced myotonia after repeated activity seen in children with myotonia congenita
Warm up phenomenon
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Worsening of myotonia with exercise seen in children with paramyotonia congenita
Paradoxical Myotonia
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Autosomal recessive disorder with myotonia, dwarfism, diffuse bone disease, narrow palpebral fissures, blepharospasm, micrognathia, and flattened facies
Schwartz-Jampel Syndrome
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Most common glycogen storage disease
McArdle's Disease (glycogenolysis type 5)
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Mitochondrial disorder which presents with progressive external opthalmoplegia, retinitis pigmentosa, and complete heart block
Kearns-Sayre Syndrome
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Occurs in about 10-15% of infants born to myasthenic mothers and is due to transplacental transfer of circulating acetylcholine receptor (AchR) antibodies from the myasthenic mother to the fetus; self-limiting with symptom resolution generally occurring within two to three weeks
Transient Neonatal Myasthenia
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Usually present between 10 days to 6 months, with an acute onset of hypotonia, dysphagia, constipation, weak cry, and respiratory insufficiency; diagnosed by electrodiagnostic studies or by measuring Clostridium botulinum toxin in a rectal aspirate containing stool
Infantile Botulism
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Hypertrophic demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy or early childhood
Dejerine-Sottas Disease (CMT 3)
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Group of inherited disorders characterized by weakness and muscle wasting, secondary to degeneration of both anterior horn cells of the spinal cord and brainstem nuclei without pyramidal tract involvement
Spinal Muscular Atrophy
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SMA type which present with severe hypotonia, weak suck, weak cry, proximal weakness, absent reflexes, and respiratory failure
SMA type I (Werdnig-Hoffman)
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Slowly progressive focal motor neuron disease affecting the upper extremities and and is common in Asian populations
Juvenile Segmental SMA (Benign Focal Amyotrophy, Hirayama Disease)
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Progressive bulbar paralysis of childhood which presents with ptosis, facial weakness, dysphagia, normal hearing, and respiratory stridor
Fazio-Londe Disease
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Spinocerebellar degeneration with onset of symptoms before 20 years old
Friedreich's Ataxia
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Inheritance pattern of Friedreich's Ataxia
Autosomal recessive
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Gene locus of Friedreich's Ataxia
9q13-21.1
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Protein implicated in Friedreich's Ataxia
Frataxin
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Manifestations of Friedreich's Ataxia
- 1. Ataxic gait
- 2. Tremor
- 3. Dysmetria
- 4. Dysarthria
- 5. Decreased proprioception and/or vibration sense
- 6. Muscle weakness
- 7. Absent deep tendon reflexes
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Preconception risk factors associated with cerebral palsy
- 1. Maternal seizures
- 2. Intellectual disability
- 3. Thyroid disease (hyper or hypo)
- 4. History of stillbirth or neonatal death
- 5. Maternal age >40 years
- 6. Low socioeconomic status
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Antenatal risk factors associated with cerebral palsy
- 1. Birth defects
- 2. Small for gestational age
- 3. Low birth weight
- 4. Placental abnormalities
- 5. Maternal disease during pregnancy
- 6. Abnormalities in fluid volume
- 7. Maternal bleeding in second or third trimesters
- 8. Hypertension
- 9. Preeclampsia
- 10. Chorioamnionitis
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Intrapartum risk factors associated with cerebral palsy
- 1. Birth hypoxia
- 2. Meconium staining
- 3. Meconium aspiration
- 4. Abnormal duration of labor
- 5. Fetal presentation
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Neonatal risk factors associated with cerebral palsy
- 1. Seizures
- 2. Respiratory distress
- 3. Hypoglycemia
- 4. Infections
- 5. Jaundice
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Postnatal risk factors associated with cerebral palsy
- 1. Stroke
- 2. Abusive head trauma
- 3. Bacterial meningitis
- 4. Motor vehicle crashes
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Intraventricular hemorrhage grading: with normal ventricular size
Grade II
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Intraventricular hemorrhage grading: with ventricular dilation
Grade III
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Intraventricular hemorrhage grading: with parenchymal hemorrhage
Grade IV
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Positive or Negative motor sign in cerebral palsy: rigidity
Positive
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Positive or Negative motor sign in cerebral palsy: weakness
Negative
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Positive or Negative motor sign in cerebral palsy: dystonia
Positive
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Positive or Negative motor sign in cerebral palsy: ataxia
Negative
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Positive or Negative motor sign in cerebral palsy: spasticity
Positive
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Positive or Negative motor sign in cerebral palsy: hyperkinesia (e.g. dystonia, chorea, athetosis, myoclonus, tremors, tics, and stereotypies)
Positive
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Positive or Negative motor sign in cerebral palsy: reduced selective motor control
Negative
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Positive or Negative motor sign in cerebral palsy: apraxia
Negative
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Gross Motor Function Classification System for cerebral palsy: walks without limitations
Level I
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Gross Motor Function Classification System for cerebral palsy: walks with limitations
Level II
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Gross Motor Function Classification System for cerebral palsy: walks using a hand-held mobility device
Level III
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Gross Motor Function Classification System for cerebral palsy: self-mobility with limitations; may use powered mobility
Level IV
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Gross Motor Function Classification System for cerebral palsy: transported in a manual wheelchair
Level V
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Manual Ability Classification System for cerebral palsy: handles objects easily and successfully
Level I
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Manual Ability Classification System for cerebral palsy: handles most objects but with somewhat reduced quality and/or speed of achievement
Level II
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Manual Ability Classification System for cerebral palsy: handles objects with difficulty; needs help to prepare and/or modify activities
Level III
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Manual Ability Classification System for cerebral palsy: handles a limited selection of easily managed objects in adapted situations
Level IV
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Manual Ability Classification System for cerebral palsy: does not handle objects with severely limited ability to perform even simple actions
Level V
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Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners effectively and efficiently
Level I
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Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners but may need extra time
Level II
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Communication Function Classification System for cerebral palsy: sends and receives information with familiar partners effectively, but not with unfamiliar partners
Level III
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Communication Function Classification System for cerebral palsy: inconsistently sends and/or receives information even with familiar partners
Level IV
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Communication Function Classification System for cerebral palsy: seldom effectively sends and receives information even with familiar partners
Level V
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Gait deviation seen in cerebral palsy which can be surgically managed with adductor tenotomy or myotomy with or without hamstring lengthening
Scissoring gait
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Gait deviation seen in cerebral palsy caused by spasticity of the gastrocnemius muscles and can be surgically managed with gastrocnemius recession and in hemiplegics, Baker lengthening orĀ Achilles tendon lengthening
Equinus
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Decreased knee flexion range of motion throughout the gait cycle seen in cerebral palsy hemiplegia secondary to overactive rectus femoris
Stiffed knee gait
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MC diplegic gait pattern in young children
Jump gait
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MC diplegic gait pattern in older children
Crouched gait
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Degenerate brain and absent skull vault and scalp
Anencephaly
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Near-complete absence of neural tube closure, sometimes sparing forebrain
Craniochischisis
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Neural arches of one or several vertebrae are incomplete in the lumbosacral region
Spina bifida occulta
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Spinal cord longitudinally split
Diastematomyelia
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Spinal cord longitudinally duplicated
Diplomyelia
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MC culprit in shunt infection
Staphylococcus epidermidis
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Constellation of stridor, central apnea, and aspiration seen in Chiari II malformation
Central ventilatory dysfunction
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Neurologic level of spina bifida without lower limb muscle function
Lower thoracic (T11-T12)
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Neurologic level of spina bifida with iliopsoas function
High lumbar (L1-L2)
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Neurologic level of spina bifida which has strong knee extension but lacks hip abduction
Midlumbar (L3-L4)
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Neurologic level of spina bifida which has strong knee flexion, strong ankle dorsiflexion and inversion, and great toe extension but lacks active hip extension and ankle plantarflexion
L5
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Neurologic level of spina bifida which has active hip extension and ankle plantarflexion and eversion, but may lack foot intrinsic muscle function
Sacral (S1, S2-S3)
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