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CCF NM Fellowship > Continuum PNS and MND: Inherited > Flashcards

Continuum PNS and MND: Inherited Flashcards

1
Q

Classification Scheme for Hereditary Neuropathies

A

HMSN (CMT) - HMN - HSAN - HNA - HSP - SCAS - Metabolic - Mitochondrial

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2
Q

5 MSK abnormalities seen in CMT

A

hammer toes, pes cavus, pes planus, cavovarus

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3
Q

CMT 1 (Demyelinating) CV definition

A

<38 m/s

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4
Q

Proband definition

A

person who brings the family under genetic study

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5
Q

Test for primary demyelinating inherited neuropathies

A

Blink Reflex R1 >13 ms latency prlongation

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6
Q

50% of CMT cases are…

A

CMT1a (demyelinating) PMP-22 duplications

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7
Q

CMT-De-AD (6 genes)

A

PMP22 - MPZ - LITAF - EGR 2 - NEFL)

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8
Q

Late onset CMTs

A

CMTJ (MPZ + Adie pupil), CMT2D - GARS1 distal UE

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9
Q

CMT %s De Axonal

A

50% Demyleinating 30% Axonal 10 % Recessive (here in cosang) X-linked 10%

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10
Q

Vocal cord paralysis

A

MFN2, TRPV4

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11
Q

Foot ulcerations

A

rab7A

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12
Q

HSAN2A congenital insensitivity to pain

A

SCN9A

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13
Q

dHMN v dMND v dMyopathy

A

markedly reduced CMAP (others slightly reduced) v MND being big units and myopathy small

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14
Q

Amyloid AD 3 types

A

TTR Gelsolin APOA1

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15
Q

Meds for TTR

A

tafamidis (oral prevents misfolding), Patisiran (small interfering RNA), Inotersen (antisense

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16
Q

Can repeat expansions be identified with current NGS

A

no

17
Q

two x-linked recessive SCAs with neuropathy

A

Friedrichs and CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia

18
Q

Three Lysosomal storage disorders with neuropathy

A

Krabbe, Fabr, Metachromatic leukodystrophy

19
Q

Mitochondrial with neuropathy

A

MNGIE, SANDO, MCARNE

20
Q

algorithm for suspected inherited neuropathy

A

screening negative then ulnar CV <38 (CMAP >0.5) and/or blink reflex >13 then PMP22 –> panel then WES

21
Q

Three therapeutic strategies for LOF and GOF mutations

A

LOF = gene replacement with AAV9 GOF RNAi or ASO

CCF NM Fellowship (8 decks)

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