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84 Cards in this Set
- Front
- Back
What is the most common childhood abnormality/disability?
Second most common? |
1. CP
2. Spina Bifida |
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Where is the highest incidence of spina bifida?
Lowest? |
highest = UK
lowest = japan |
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Name 5 environmental risk factors for developing spina bifida
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1. Low socioeconomic
2. midSPRING conception 3. Maternal OBESITY 4. Anticonvulsant exposure (valproic acid, carbamazepine) 5. Maternal febrile illness |
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What supplement has been shown to significantly reduce the ocurrence & recurrence of neural tube defects?
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FOLIC ACID
*0.4 mg/day |
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In the embryo when does normal neural tube closure begin?
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3rd week of gestation
*starts mid cervical and goes both cephalad and caudal *defect in closure is thought to actually happen at around day 26 |
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Which body fluids are tested in order to detect neural tube defects prenatally -how are they collected?
What two substances are measured specifically? |
Maternal serum, amniotic fluid collected via blood draw & AMNIOCENTESIS
- Measuring 1. Alpha Feto Protein (AFP) in amniotic fluid 2. Acetylcholinesterase |
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What is the ideal time to have an amniocentesis performed in order to look for neural tube defects?
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16-18 weeks gestation
*nearly 100% accurate for detecting elevated amniotic fluid AFP *80% reliable in weeks 13-15 |
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How is it possible for a child to be born with a neural tube defect even though amniocentesis at 16-18 weeks showed normal amniotic fluid AFP levels?
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Amniocentesis can only detect elevated AFP if the neural tube defect is OPEN (not covered by skin)
- CSF needs to be able to leak out in order for AFP to be elevated |
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What is the ideal time to have a fetal ultrasound performed in order to look for neural tube defects?
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16-24 weeks gestation
*>90% reliability |
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What are the two major types of Spina Bifida?
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1. Occulta - no herniation
2. Cystica - there is hernation of spinal cord contents - meningocele - myelomeningocele - myelocele |
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What does spina bifida "APERTA" mean?
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refers to any NTD lesion in which deformity is OPEN TO THE ENVIRONMENT (ie, any category of spina bifida CYSTICA)
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What is are some frequent physical exam findings that indicate spina bifida occulta?
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- pigmented nevus
- angioma - hirsute patch - dimple - dermal sinus *usually lumbosacral |
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What type of spina bifida is associated with Arnold-Chiari malformation?
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CYSTICA
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Motor paralysis in spina bifida is usually UMN or LMN type?
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LOWER MOTOR NEURON
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What type of spina bifida?
Failure of fusion of the posterior elements of the vertebrae. |
OCCULTA
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What type of spina bifida?
The protruding sac contains meninges and spinal fluid but NOT the spinal cord. |
MENINGOcele
*meningo = meninges |
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What type of spina bifida?
The protruding sac contains meninges, spinal cord, & spinal fluid. |
MYELOMENINGOcele
*myelo = spinal cord *meningo = meninges |
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What type of spina bifida?
Cystic cavity is in FRONT of the spinal cord |
MYELOcele
*This is not a cystic "sac" it is an actual CAVITY that pushes the spinal cord out through the defect |
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What type of spina bifida?
Arnold-Chiari malformation Complicated by hydrocephalus in over 90% of the cases |
MYELOMENINGOCELE
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What type of spina bifida?
Occurs in <10% of spina bifida cystica |
MENINGOCELE
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What type of spina bifida?
In the absence of other underlying malformation neurologic signs are normal |
OCCULTA
MENINGOCELE |
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What type of spina bifida?
Rare associated with SACRAL LIPOMA and TETHERED CORD |
OCCULTA
*these children should be followed closely for these reasons |
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What type of spina bifida?
Motor paralysis, sensory deficits, neurogenic bowel and bladder |
MYELOMENINGOCELE
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What is the most common veretebral level for spina bifida occulta to occur?
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L5-S1
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What type of spina bifida?
Affects the overwhelming majority of those with spina bifida cystica |
MYELOMENINGOCELE
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What type of spina bifida?
Exposed spinal cord without overlying skin or even meninges |
MYELOCELE
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40% of the associated deficits caused by spina bifida are due to a lesion at what spinal cord levels?
What are the deficits seen? |
T6-T12
- complete leg paralysis (flaccid>spastic) - hip/knee flexion contractures (frog leg) - kyphosis/scoliosis - equinus foot - bowel/bladder dysfxn |
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EARLY hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?
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L1-L2-L3
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LATE hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?
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L4-L5
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Knee EXTENSION contracture is a deficit caused by spina bifida due to lesions at what spinal cord levels?
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L4-L5
*knee extension via quads (L2, L3, L4) is unopposed by paralyzed hamstrings (L5, S1) |
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DORSIFLEXION (calcaneous foot deformity) of the ankle is a deficit caused by spina bifida due to lesions at what spinal cord levels?
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L4-L5 -lower lumbar
*Tibialis anterior (L4,L5,S1) may still be innervated while gastroc/soleus (S1,S2) are completely paralyzed *Lower thoracic or upper lumbar = rigid club foot |
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What associated deficits will a patient with spina bifida that affects only the sacral levels (S1,S2,S3,S4) have?
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1. Bowel and bladder dysfunction
2. Pes cavus foot due to intrinsic muscle denervation 3. Clawing of toes due to intrinsic muscle denervation *plantar branches of tibial nerve innervate foot intrinsics |
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If a child has hydrocephalus at birth when does it become symptomatic?
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During the first week of life
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What is an Arnold-Chiari malformation?
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ACM II: downward displacement of the medulla and brainstem through the foramen magnum with associated kinking of the brainstem.
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If a child with spina bifida has an Arnold-Chiari malformation he/she likely has what type?
He/she also likely has what associated complication? |
Myelomeningocele
HYDROCEPHALUS (90%) |
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How do you typically treat hydrocephalus associated with spina bifida?
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>80% of children require ventriculoperitoneal shunting with revision.
*revision in 1st yr =3-50%, 2nd yr = 50-75%, 5 yrs =100% |
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What are the two most common complications following shunting of a hydrocephalus associated with spina bifida?
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1. INFECTION
2. obstruction |
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What correlation exists between the occurrence of hydrocephalus and the level that spina bifida occurs at?
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Thoracic >> lumbar >> sacral
*the higher relative to the thoracic level the NTD lesion is, the more likely to develop hydrocephalus |
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Decompression of ACM II is sometimes necessary to halt the progression of what spina bifida associated complication?
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forebrain & hindbrain malformations
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A spina bifida patient that presents with progressive weakness, pain, urologic dysfunction, & possible scoliosis should be worked up for what spina bifida associated complication?
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1. TETHERED CORD -can go undiagnosed for several years
2. Syringomyelia *tethered = abnormal attachment of cord at distal end *remember the bone growth in the spine outpaces the lengthening of the spinal cord so spinal cord normally ends at L1-L2 level |
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Syringomyelia usually occurs in what region of the spine?
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CERVICAL
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What is the most frequent single cause of death in myelodysplasia?
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central RESPIRATORY dysfunction
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hypERtonic (spastic) bladder is most common in myelomeningocele patients that are affected at what region of the spine?
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THORACIC
*contains SYMPATHETIC innervation, which serves to relax the bladder wall and constrict the neck (storage) |
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hypOtonic (flaccid) bladder is most common in myelomeningocele patients that are affected at what region of the spine?
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SACRAL
*contains PARASYMPATHETIC innervation, which serves to contract the bladder wall and relax the neck (emptying) |
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#1 delayed self care task in myelomeningocele
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independence with toileting (10-15 years old)
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Patients with a myelomeningocele lesion ABOVE what level are capable of maintaining anal sphincter tone despite not having rectal sensation?
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L2
*lesions below this level destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline |
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Why is the presence of a bulbocavernous or anocavernous reflex associated with a greater chance of bowel continence?
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Indicates that the spinal reflex arc is INTACT
*lesions below L2 destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline |
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Increased pressure on the HYPOTHALAMUS due to ACM II from myelomeningocele may cause what spina bifida associated complication?
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PRECOCIOUS PUBERTY
*10-20% of myelomeningocele with hydrocephalus |
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What effect does hydrocephalus have on IQ?
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Hydrocephalus alone does not exclude normal cognitive function. However, its complications,
such as repeated CNS complications with meningitis, can lead to significant deficit. |
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What correlation exists between IQ and the level that spina bifida occurs at?
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HIGHER LESION = LOWER IQ
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When is neurosurgical repair of cystic lesions associated with spina bifida usually performed?
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1st day of life
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Routine screening intravenous pyelogram is recommended for those with myelomeningocele at what age?
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2 years old
*Renal US should be performed at 2 WEEKS old to characterize anatomy (look for malformations) |
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RAPIDLY progressing SCOLIOSIS should prompt a workup for what spina bifida associated complication?
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TETHERED CORD
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Spina bifida associated spinal deformities (scoliosis, kyphosis) occur most commonly in those with NTD lesions in what region of the spine?
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THORACIC
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A spina bifida patient presents with BILATERAL hip dislocation, how do you treat it?
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You don't -best left alone if there is no restriction of joint motion
*unilateral you do want to treat as they can lead to asymmetric contractures, pelvic obliquity, decubiti, etc. |
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How severe can a knee flexion contracture get before it starts to significantly affect ambulation?
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less than or equal to 20% (knee can extend to ~145 degrees)
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What is one possible surgical treatment for a calcaneous foot?
(dorsiflexed) |
Posterior transfer of TIBIALIS ANTERIOR
*performed at >5 yo |
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All spina bifida patients should be screened for what ALLERGY to what?
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LATEX
*59% of spina bifida patients have sensitivty to it *500x increased risk of ANAPHYLAXIS in OR vs control |
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What levels of the spinal cord need to be spared in order for a child wit spina bifida to be able to SIT normally?
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L4-L5
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A patient with spina bifida may be able to use AFOs to assist in ambulation if what level is spared?
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L3 - need to have intact knee extension
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A child with spina bifida needs to be at least how old to start to learn how to cruch walk?
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MENTAL age of 2-3 years old
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In order for a patient with spina bifida to use a RECIPROCATING GAIT ORTHOSIS to aid in ambulation, what muscle action must be preserved?
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HIP FLEXION
*some lower lumbar spina bifida patients retain this (NTD lesion below L2) |
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Approximately what % of all thoracic, high lumbar, and low lumbar (<15 yo) achieve some degree of community ambulation
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31-38%
*15-31 yo low lumbar, 95% reach functional community ambulation *100% of sacral lesions are able to reach functional community ambulation |
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Male sexual function is present in spina bifida patients with lesions below what level?
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L5
*Reproductive potential is related to LOWER and less severe lesions |
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SMA (spinal muscular atrophy) primarily affects what part of the motor unit?
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ANTERIOR HORN CELL (cell body of motor neuron)
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Hepatosplenomegaly is a common sign of what type of neuromuscular disease?
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METABOLIC MYOPATHY
*acid maltase deficiency (Pompe's) |
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Typically how strong are plantarflexors compared to dorsiflexors?
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Plantarflexors are SIX TIMES as strong as dorsiflexors
*explains why PLANTARFLEXION contractures of the are seen when both doriflexors & plantarflexors are dysfunctional |
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Name the 4 main categories of NEUROMUSCULAR DISEASE
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1. Motor neuron disease
2. Peripheral neuropathy 3. NMJ disease 4. Myopathy |
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Which group of muscles exhibits weakness EARLIEST in DUCHENNE?
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NECK FLEXORS -preschool age
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In DUCHENNE which muscle group is typically weaker:
1. knee extensors vs. knee flexors 2. hip extensors vs. hip flexors |
1. knee EXTENSORS are WEAKER (quads)
2. hip EXTENSORS are WEAKER |
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Dystrophin protein is found in what areas of the body?
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1. Skeletal muscle
2. CARDIAC muscle 3. Brain |
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When do BECKER's patients typically lose the ability to ambulate?
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Late teens
*duchenne patients are on average wheelchair bound by age 10 |
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Which FACIAL muscles in FSH Dystrophy are characteristically spared?
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- Extraocular muscles
- Masseter - Temporalis - Pharyngeal muscles *Distinguished from Congenital Myotonic Dystrophy "Hatchet Face" = wasting of temporalis & masseter |
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Posterior & lateral scapular winging, high riding scapula, & hyperlordosis can be seen in association with what neuromuscular disease?
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FacioSCAPULOhumeral Dystrophy
*SCAPULO = SCAPULA!!! |
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What is the gene locus affected by FSH dystrophy?
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4q35
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Deficiency in EMERIN leads to what neuromuscular disease?
Pattern of inheritance? |
EMERY-dreifuss muscular dystrophy (EMD)
X-linked RECESSIVE |
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When does Emery-Dreifuss Muscular Dystrophy (EMD) usually present?
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adolescence to early adulthood
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Focal wasting of CALVES & BICEPS is characteristic of what neuromuscular disease?
What is the hallmark sign of this disease? |
Emery-Dreifuss Muscular Dystrophy (EMD)
Early presence of ELBOW FLEXION CONTRACTURE -d/t wasting of biceps *may also see heel cord tightness with plantarflexion contractures d/t wasting of calves, tight spine extensors limit cervical/thoracic flexion |
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Those with Emery-Dreifuss Muscular Dystrophy (EMD) also may have abnormalities of what other organ system?
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CARDIAC -can be lifte threatening, may need pacer
*holter monitoring is sometimes necessary to detect abnormalities |
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Pattern of inheritance for LIMB GIRDLE MUSCULAR DYSTROPHY?
Age of onset? |
Auto RECESSIVE or DOMINANT (wide spectrum of different genetic anomalies)
- onset varies from early childhood to adult *Can present like Duchenne or Becker's but genetic defects are distinct (not at all related to Xp21). |
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What is the pattern of inheritance for MINICORE myopathy?
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Auto-RECESSIVE
*CENTRAL core is auto DOMINANT, so think of MINI core as a smaller/mini/less dominant (ie, recessive) type of central core |
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What is the pattern of inheritance for Schwartz Jampel Syndrome?
What are some of its characteristic features? |
Auto-RECESSIVE
- DWARFISM - hypotonia - diffuse BONE DISEASE - micrognathia w/ flattened face *nonprogressive congenital myotonic myopathy |
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What is the prognosis like for Transient Neonatal Myasthenia?
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Self limited - resolution in approximately 2-3 weeks
*mother with MG transfers some of her Anti-ACh receptor Abs to neonate through placenta, but child eventually clears them, can also administer pyridostigmine/prostigmine |
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What is the pattern of inheritance for Congenital or Infantile Myasthenia?
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Auto-RECESSIVE -but multifactorial
*AChR antibodies are ABSENT, mothers do not have MG in this case |