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100 Syndromes to know!! > Neurological/Neuromuscular > Flashcards

Neurological/Neuromuscular Flashcards

1
Q

elevated VLCFA

20% females with spastic paraparesis

X-linked

A

X-linked Adrenoleukodystrophy

  • ABCD1*
  • 3 types:*childhood, adrenomyeloneuropathy, Addison’s dosease only

Corticosteroid replacment

Bone Marrow transplant; supportive care

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2
Q

post mortum: beta amyloidneuotic plaques

intraneuronal neurofibrillary tangles

amyloid angiopathy

A

early onset familial Alzheimer’s Disease

PSEN1, APP, PSEN2

APOE e4 assoc/APOE e2 protection: Late onset familial Alzheimer’s Disease

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3
Q

loss of maternall imprinted contribution

15q11.2-q13

A

Angelman Syndrome

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4
Q

stroke like episodes before the age of 60

cognitive disturbance

behavioral abnormalities

migraine with aura

A

CADASIL

Cerebral Autosomal Dominant Arteriopathy with subcortical infarcts and Leukoencephalopathy

NOTCH3

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5
Q

macrocephaly developmental delay

hypotonia progressing to spacticity

increase urine NAA (N- acetyl aspartic acid)

abscence of aspartoacylase

A

Canavan Disease

  • ASPA*
  • Autosomal Recessive*

AJ ancestry

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6
Q

smooth tongue without typical vascularized fungiform papulae

A

Familial dysautonomia

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7
Q

X-linked

CGG triplet repeat

silencing of methylation

A

Fragile X

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8
Q

CAG repeat expansion

36-39: reduce penetrance

>40: full penetrance

>60 juvinille onset

A

Huntington Disease

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9
Q
  • GALC*
  • AR*

Galactocerebrosidase def

A

Krabbe Disease

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10
Q

low serum Cu and ceruloplasmin

high urinary excretion of Cu

Bx: increase liver Cu storage

Kayser-Fleisher rings

A

Wilson Disease

ATP7B

Loss of function

  • impaired holoceruloplasmin biosynthesis and biliary excretion of copper
  • copper mediated oxidative stress
  • cell death
  • leakage of copper into the plasma
  • copper over load of tissue
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11
Q

CDKL5

A

Rett syndrome

small subset present atypically with early onset seizures

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12
Q

Rett Syndrome

normal function of MECP2

A

binds methylated CpG Islands

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13
Q

loss of motor neurons: UMN and LMN signs

CN VII, XI, X

toxic gain of function

  • SOD1*
  • Tx:* Riluzole
A

Amyotrophic Lateral Sclerosis

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14
Q
  • PMP22*
    17p11. 2

Duplication

nerve biopsy: segmental demyelination, myelin sheath hypertrophy

dominant negative mutations/increase dosage

A

Charcot Marie Tooth

CMT1A

progressive distal muscle weakness and muscle wasting

hyporeflexia

abnormal nerve condution sydies

De novo duplications (20-30%): 90% arise during male meiosis

Reciprocal deletion : Herediatary neuropathy with pressure palsies (HNPP)

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15
Q

Eteplirsen

A

antisensense oligonucleotide

induce exon skipping (exon 51)

Tx: DMD

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16
Q

abnormal expanded GAA repeat in intron 1

2/3 have cardiomyopathy

30% have DM

A

Friedreich ataxia

FXN gene

AR inheritance

Loss of function of fratatxin

full mutation >66

normal rpt: 5-33

17
Q

walk on tiptoes

difficulty running

scapular winging

waddling gait

slight hyperlordosis

elevated serum CK

A

Calpinopathy

AR Inheritance

CAPN3 gene

18
Q

increase muscle irritability

percussion induced rapid contaction

percussion induced muscle mounding

A

Caveolinopathy- rippling muscle disease

AD inheritance

CAV3 gene

19
Q

CTG triplet repeats in 3’-UTR

cataracts/mytonia

arrhythmias

grip myotonia

respiratory distress

gain of function RNA mechanism

PCR can only detect repeats ~100 repeats

Southern blot can detect >100 repeats

A

Myotonic Dystrophy Type 1

DMPK gene

AD inheritance

multisystem condition

Mild: 5-150 repeats

Classic: 100-1000 repeats

Congenital: > 2000

20
Q

Muscle biopsy: rod shaped structures

stained with Gomori trichrome

A

Nemaline Myopathy

hypotonia, weakness, depressed or absent deep tendon reflex

6 types overlap

Amish type

walking before 18 months predictive of survival

21
Q

Spinal Muscular Atrophy

  • Increase in SMN2 copy number can modify the _______
  • SMN2 lacks exon ___
  • Tx: Spinraza/Nusinersen: ______RNA lead to induction of exon ___ in the SMN2 transcript
  • Carriers of 2 copies of SMN1 in ___ will be misdiagnosed as non-carriers
A
  • Phenotype
  • 7
  • Anti-sense ; 7
  • cis

  • Exon 7 of SMN1: undetectable in > 95% irrespective of clinical subtype*
  • SMN1 (telomeric)*
  • SM2 (centromeric)*
22
Q

Hypotonia

Symetric generalized weakness

CNS migration distubances: Cobblestone Lissencephaly

elevated CK

microcorne/microphthalmia,cataracts,retinal dysplasia/detachment

A

Syndromic Congenital Muscular Dystrophy

Fukuyama: FKTN

Muscle-eye-brain: POMGNT1

Walker-Warburg: POMT1, POMT2

Congenital Muscular Dystrophy Type 1D : LARGE

23
Q

seizures

vision loss

exagerated startle

progressive neurogeneration

cherry red spot on eye exam

A

Tay-Sachs Disease

Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside.

The diagnosis of hexosaminidase A deficiency relies on the demonstration of absent to near-absent beta-hexosaminidase A (HEX A) enzymatic activity in the serum or white blood cells of a symptomatic individual in the presence of normal or elevated activity of the beta-hexosaminidase B (HEX B) isoenzyme.

HEXA common mutation panel: 92% Ashkenazi Jewish

24
Q

WHat percentage of individuals with Huntington disease can be affected by suicidal behaviour?

A

Suicidal behavior, in particular, can affect up to 20% of symptomatic and pre-symptomatic patients. Suicide is 12 times more frequent among Huntington’s patients compared to the general population

Suicide affects about 12% of individuals with HD

25
Q

A blood sample is needed from another family membe of an individual seeking predictive testing for HD, how should the health provider/team proceed?

A

Any communication between the testing team and family members must be discussed in advance with the Individual (person seeking predictive testing). For example, if a blood sample from another family member is needed to confirm a genetic diagnosis of HD, the Individual should speak with the relevant family member first. The testing team must ask for guidance from the Individual about communications from the team, such as leaving voice mail messages, mailing HD materials to the home or workplace, or emailing.

26
Q

An Individual is seeking predictive testing for HD. It is discovered during her initial evaluation that she has been diagnosed with depression and is currently on medication and experiencing some symptoms. How should the healthcare provider/team proceed

A

Active psychiatric problems must be stabilized before an Individual undergoes predictive testing. Predictive testing cannot proceed if the responsible health professional believes it would be harmful to the individual

http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf

27
Q
A

100 Syndromes to know!! (10 decks)

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