A3 Neurologic Disorders 101-100 Flashcards
What is the GAS test/measure
Goal Attainment Scale (GAS) Was developed in 1968 and used to evaluate mental health programs. It has been used widely and updated since then. It has been used for Pediatric development measuring
Features of Erb’s Palsy
- Upper trunk 2. C5 and C6 3. Arm adducted and internally rotated 4. Forearm extended 5. Hand pronated 6. Weak wrist extension with preserved fingers
What is Sinding Larsen Johansson
Apophysitis of bottom of the patella
What is the age that is the cut off for beneficial results of brachial plexus surgery?
1 year (past not good)
What is Sever’s Disease
Calcaneal Apophysitis
Most common congenital limb deficiency
Amniotic bands causing transverse amputation
prednisone versus Deflazacort in Duchenne
decreased weight issues Increased risk of cataracts
name 3 childhood onset muscular dystrophies
- Duchenne 2. Emery-Dreifuss 3. Some forms of limb girdle
Juvenile Dermatomyositis (Most common juvenile inflammatory myopathy of childhood) Name 4 features
- Gottron’s Papules 2. Heliotrope Rash 3. Periorbital edema 4. Malar rash
Features of Psoriatic Arthritis (JIA)
Arthritis and Psoriasis Positive family history of psoriasis 1st degree relative Plus dactylics or appropriate fingernail abnormalities
Incidence of Brachial Plexus Palsy
1.5 per 1,000 live births
Features of Oligoarthritis (JIA)
<5 joints Persistent and remains <5 joints Extended <5 joints for 6 months then increases
Features of Systemic Arthritis (JIA)
- Fever 2. Rash 3. Lymphadenopathy 4. Hepatosplenomegaly
3 Types of Myasthenia Gravis (Pediatric)
- Neonatal – due to transfer of of antibodies from MG mom to baby
- Congenital – genetic
- Acquired – autoimmune
Hereditary Spastic Paraparesis Type 4. Which gene mutation and inheritance
SPAST Autosomal dominant
Myotonic Dystrophy (a congenital myopathy) Name 4 features
- Clubfoot 2. Hypotonia 3. Respiratory Difficulty 4. Intellectual disability
which is true of spinal muscular atrophy (SMA)? A. In 95% of the patient the survival motor neuron gene 1 (SMN1) lacks function B. The number of copies of the survival motor neuron gene to (SMN2) determines both the age of onset and the severity of the disease C. The survival motor neuron gene is on the X chromosome The. All forms of spinal muscular at her fetal in early childhood
B. the number of copies of the survival motor neuron gene 2 (SMN2) determines both the age of onset and the severity of the disease All patients with spinal muscular atrophy type a missing or nonfunctional SMN1 gene. The SMN gene is on chromosome 5. 95% of cases of SMA are due to autosomal recessive defects, however 100% of patients have a non-function SMN1 gene. The number of copies of the SMN to gene determines the severity of his. Although the most severe forms of SMA are we are there are only 1 or 3 copies of the SMN2 gene can be fatal in early childhood, many of the milder forms are compatible with survival well into adulthood
SMA Type 3a Age at onset Highest function Natural death SMN2#
18 mo- 3 years Stand alone Death Adult SMN2# 3,4 copies
Peripheral Neuropathy of children
CMT most common Disorder of myelination axons
Features of Erb’s Plus
- Upper and Middle Trunk 2. C5 to C7 3. Arm adducted and internally rotated 4. Forearm extended 5. Hand pronated 6. Weak wrist extension 7. Wrist and fingers flexed
Differential for Brachial Plexus Palsy
- Psudoparalysis from clavicle fracture 2. Septic arthritis 3. Spinal cord injury 4. cervical cord injury 5. congenital varicella of the upper limb 6. arthrogryposis 7. Poland syndrome
Congenital limb deficiency What is the most affect limb?
Upper Extremity
Features of Kumpke
- C8 to T1 2. Claw hand with extension of MCP and flexion of IP due to loss of hand intrinsics
What is osgood-Schlatter Disease
Apophysitis of tibial tubercle
Mitochondrial Myopathy (A congenital myopathy) Described 1980
-Multi system dysfunction -Coenzyme q10 helpful
Duchenne stats
1 in 5,000 male live births X linked Xp21 Ambulation 8-12 Like expectancy 20+
All the following are conditions associated with toe walking EXCEPT: a. autism b. CP c. Muscular Dystrophy d. Childhood onset schizophrenia e. Osgood-Schlatter disease
e. Osgood-Schlatter All other are associated with idiopathic toe walking
Features of Polyarthrititis (JIA)
- >4 joints 2. Polyarthritis RF negative 3. Polyarthritsi RF positive
SMA Type 4 Age at onset Highest function Natural death SMN2#
> 21 years Stand alone Death adult SMN2# 4-8
EMG findings in Acquired Myasthenia Gravis
At least 10% decrement with 2 - 3 Hz repetitive nerve stim
Increased jitter and blocking on single fiber EMG
What is the COPM test/measure?
The Canadian Occupational Performance Measure (COPM) is a standardized outcome measure in which the child/caregiver identifies individual goals for occupational performance and rates their performance and satisfaction for each goal on a scale of 1 to 10 (where 10 is the highest)
SMA Type 3 Age at onset Highest function Natural death SMN2#
> 18 months Stand alone Death Adult SMN# 3,4 Copies
Spondylolisthesis/spondylosis and Scheuerman’s disease
–Scheuerman’s Osteonecrosis (interruption of blood supply)
Timing of prosthesis
Upper: Fitting at age of independent sitting with hands free (9 months). Activation of terminal device at 24 months Lower: First fits at age of standing independently (12 mo), Articulated foot at about age 5 Articulated knee at 3-4
SMA Type 1 Age at onset Highest function Natural death SMN2#
0-6 months Never Sit Death < 2 years SMN# 2 copies
SMA Type 2 Age at onset Highest function Natural death SMN2#
<18 months Never Stand Death > 2 years SMN# 3,4 copies
4 types of Brachial Plexus palsy
- Erb’s 2. Erb’s Plus 3. C5 to T1 4. Kumpke
Which predicts a good outcome for Erb’s brachial plexus palsy? a. Horner’s syndrome b. Antigravity biceps age 3 months c. antigravity finger flexion age 3 months d. shoulder internal rotators stronger than external rotators
b. Antigravity biceps by age 3 months Prognosis for brachial plexopathy is excellent if child can flex antigravity biceps by 3 months. Antigraphity finger flex and increased strength of shoulder internal versus external rotators are expected as part of Erb’s. Children with Horner’s tend to have more severe arm weakness and poor outcome
What is the general categories by age of muscular dystrophies?
congenital Childhood onset Late childhood/adult onset
Features of C5 to T1
- Flail arm 2. Horner’s syndrome (miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face)) 3. Diaphragmatic paralysis
Incidence of congenital limb deformity
8/10,000 live births
All of the below represent differences between Becker and Duchenne EXCEPT: a. Becker affects boys and girls equally b. Becker is rarer than Duchenne c. Symptoms later in Becker with gradual loss of strength d. Both affects dystrophin but Beckers there is abnormal production and Duchenne dystrophin absent
a. Becker DOES NOT affect boys and girls equally Becker Muscular Dystrophy is a genetic disorder with abnormal production of dystrophin on Xp21. X-linked recessive. Females are carriers. Symptoms are later than Duchenne. Symptoms are milder
Testing for Duchenne
elevated CPK Absence of dystrophin and blood test Muscle biopsy showing myonecrosis, fibrosis, absence of dystrophin on antibody testing EMG showing low voltage, short duration and polyphasic action potential Genetic testing showing dystrophin gene mutation
Prognosis Brachial Plexus injury
- 66 to 95% recovery 2. 3 months of age, positive predictive value of regained elbow flex is 100% for complete recovery 3. When shoulder external rotation and forearm supination is used, positive predictive value 99% and 96%
Which organ might be involved in acquired MG?
How often?
Thymus
Hyperplastic
Produces acetylcholine receptor antibodies
80% have Thymus involvement
SMA Type 3b Age at onset Highest function Natural death SMN2#
> 3 years Stand alone Death Adult SMN# 4
Features of FascioScapuloHumeral Muscular Dystrophy
Autosomal Dominant, many new mutations
Face weak
Winged scapula
Hip, thigh, and lower leg weakness in time
Forearms relatively spared (Popeye)
Often normal life expectancy
name 2 forms of late childhood/adult onset muscular dystrophies
- Becker 2. Fascioscapulohumeral Dystrophy
Effect of Prenisone on Duchenne
increased strength Extend ambulation 2-4 years Possibly decrease risk of scoliosis Possibly decreased cardiomyopathy
Mucolipidoses
Mucolipidosis is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells.[1]
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[2] A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis,[2] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[3]
Mucopolysaccharidoses
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints.
Treatment of options JIA
- NSIADs 2. Glucocorticoids 3. DMARDS (non-biologic disease modifying anti-rheumatic drugs) 4. Biologic DMARDS -TNF inhibitors -Interleukin 1 or 6 inhibitors
Associated syndromes with congenital limb deficiencies
Longitudinal deficiencies (one bone or region) -TAR (Trombocytopenic absent radius) -VATERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.)
Complication of Acquired limb deficiency
If through diaphysis, distal bone may grow disproportionately and grow through distal tissue and cause infection. Therefore disarticulation is favored with added advantage of epiphyseal growth
Evalution of brachial plexus injury in newborn nursery
- Eval for fractures of clavicle, humerus, c-spine 2. Check SCM for torticollis 3. Check for symmetry of Moro 4. Check for ptosis and pupil size
Guillian Barre
Most common childhood inflammatory neuropathy
Mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells.[1]
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[2] A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis,[2] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[3]
Features of Limb-Girdle Muscular Dystrophy
Group of phenotype and genotype disorders
Progressive weakness of proximal upper and lower muscles
Both autosomal dominant and recessive forms
Various age of onset child to adult
Variable life expectancy, earlier worse
Some cardiac involvement
Idiopathic Toe walking
Common until 2 After 3 consider neurologic, developmental, and psychiatric (autism) Possible genetic component Natural history unknown PT does not correct Serial casting, bracing, Botox, and Surgery helpful
Sphingolipidoses
Sphingolipidoses
Other namesSphingolipidosis
Diagram showing some of the sphingolipidoses
SpecialtyMedical genetics
Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood.
What is Poland Syndrome?
is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. Short ribs, less fat, and breast and nipple abnormalities may also occur on that side
SMA Type 0 Age at onset Highest function Natural death SMN2Sphingolipidoses
Prenatal Respiratory support Death < 1mo SMN, 1 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood.
Features of Myasthenia Gravis
Weakness that improves with rest
Ptosis and diplopia
Dysphagia
Dysphonia
Respiratory decrease
Proximal muscle weakness
Juvenile Idiopathic Arthritis (JIA) -no longer JRA Types
- Sytemic arthritis (15%) 2. Polyarthritis (30%) 3. Oligoarthritis (50%) 4. Enthesitis-related arthritis 5. Psoriatic arthritis
