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Genetic Counseling Boards > Neurogenetics > Flashcards

Neurogenetics Flashcards

1
Q

Neurodegeneration

A

progressive disease of the nervous system

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2
Q

Types of Neurodegenerative Disorders

A
  • dementia
  • movement disorders
  • ataxia
  • motor neuron disorders
  • adult onset neuromuscular disorders
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3
Q

Polyglutamine (CAG) Repeat Disorders

A
  • Huntington disease
  • spinocerebellar ataxia
  • spinobulbar muscular strophy
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4
Q

Non-Polyglutamine Repeat Disorders

A
  • fragile X (CGG)
  • myotonic dystrophy 1 (CTG)
  • myotonic dystrophy 2 (intronic CCTG)
  • Friedreich’s ataxia (intronic GAA)
  • SCA8 (CTG)
  • CANVAS (AAGGG)
  • C9orf72 (intronic GGGGCC)
  • oculopharyngeal muscular dystrophy (polyalanine tract expansion)
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5
Q

T/F: NGS detects repeat expansion disorders

A

False; blotting, methylation studies, WGS may detect them

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6
Q

Movement Disorders

A
  • dystonias
  • Parkinsonian disease
  • ataxias
  • hereditary spastic paraplegia
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7
Q

Neuromuscular Disorders

A
  • muscular dystrophies
  • myopathies
  • neuromuscular junction dysfunction
  • sensory/motor nerve dysfunction
  • anterior horn cell dysfunction
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8
Q

Muscular Dystrophies

A
  • DMD/BMD
  • LGMD
  • Emery-Dreifuss
  • RNA-mediated: myotonic dystrophies
  • facio-scapulo-humeral muscular dystrophy (FSHD)
  • congenital muscular dystrophies w/o ID: primary merosin deficiency, Ullrich congenital muscular dystrophy
  • congenital muscular dystrophies w/ ID: dystroglycanopathies (Walker-Warburg, muscle eye brain disease, Fukuyama, FKRP spectrum)
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9
Q

Congenital Myopathies

A
  • nemaline myopathy
  • central core disease
  • malignant hyperthermia
  • multi/minicore myopathy
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10
Q

Metabolic Myopathies

A
  • Pompe disease
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11
Q

Congenital Myasthenic Syndromes (neuromuscular junction disorders)

A
  • myasthenia gravis

- congenital myasthenic syndromes

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12
Q

Anterior Horn Cell Diseases

A
  • spinal muscular atrophy
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13
Q

Peripheral Neuropathies

A
  • Charcot-Marie-Tooth disease
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14
Q

Diagnostic Work-Up for Neuromuscular Disorders

A
  • symptom localization on neurologic exam
  • CK level
  • electrophysiological studies (EMG, NCV)
  • muscle biopsy
  • genetic testing
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15
Q

5 Neuromuscular Disorders Not Detected by WES

A
  • most DMD/BMD
  • CMT1A and HNPP
  • myotonic dystrophies
  • FSHD
  • SMA
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Genetic Counseling Boards (22 decks)

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