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AUTONOMIC DISORDERS

Diseases or syndromes
  Acute
  Amyloidosis
  Catecholamines
  Congenital
  Diabetes Mellitus
  Drugs & Toxins
  Hereditary
  Immune
  Infections
  Localized dysfunction
  Paraneoplastic
  Primary dysautonomia
  System degenerations
  Systemic diseases

System disorders
  Cardiac
  Gastrointestinal
  Hypotension
  Lacrimation
  Ocular & Pupils
  Pandysautonomia
  Respiratory
  Sexual
  Sweating
  Urinary

Other
  Physiology & Pharmacology 
  Pavlov laboratory

From Horsley Gantt
Pavlov lab
From Horsley Gantt


AUTONOMIC DISEASE SYNDROMES


AUTONOMIC SYNDROMES: System disorders

Acute
Cardiac
Gastrointestinal
Hypotension
Lacrimation
Ocular
Pandysautonomia
Respiratory
Sexual
Sweating
Urinary


Pandysautonomia: Autoimmune; Acute, Sub-Acute or Chronic 16
Dysautonomia + CNS syndrome 33
Gastrointestinal syndromes

Achalasia
Acquired
Amyloid
Chagas
CIPO (CIIP)
  ACTG2
  FLNA
  MYH11
  RAD21
  SGOL1
Congenital absence of pain
Hirschsprung's (HSCR)
  Goldberg-Shprintzen: KIAA1279
  Mowat-Wilson: SMADIP1
  HSCR: RET
Multiple endocrine neoplasia 2B
Paraneoplastic
Post-surgical
Visceral
  Myopathy
    + Ophthalmoplegia
    Dominant: ACTG2
    Multisystem: ACTA2
  Neuropathy



Heart rate: Parasympathetic control

Postural hypotension (Blood pressure: Sympathetic, noradrenergic control)

Other blood pressure disorders

Sweating 40

General
Hyperhidrosis
  Acquired
  Hereditary
  CNS
Anhidrosis
  Differential diagnosis
  Drugs
  Hereditary


Urinary

Sexual dysfunction

Ocular

Adie
Horner's
Ross
Muscarinic AChR disorders
Actin smooth muscle disorders
Other pupil disorders
  Congenital MG
    Acetylcholinesterase (AChE) deficiency
  Hereditary neuropathy
    2J (P0 mutations)
    HSAN 2B
  Miosis
    Tubular aggregate myopathy (Stormorken)
      TAM1: STIM1
      TAM2: ORAI1

From: Monique Ryan
Congenital Horner's: Iris heterochromia


Absence of lacrimation (Alacrima)
Respiratory disorders, Autonomic

Multiple Systems Atrophy (Shy-Drager)

  Sporadic or Autosomal Dominant

Riley-Day (HSAN 3) 19

  Inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP; ELP1) ; Chromosome 9q31.3; Recessive

Congenital sensory neuropathy with anhidrosis (HSAN 4; CIPA)

  TRKA/ NGF receptor (NTRK1) ; Chromosome 1q23.1; Recessive

HSAN 6: Autonomic Sensory Neuropathy 28

  Dystonin (DST) ; Chromosome 6p12.1; Recessive

Parkinson disease, juvenile onset

  Parkin ; Chromosome 6q26; Recessive

Dopamine β-Hydroxylase deficiency (ORTHYP1) 41

  Dopamine β-hydroxylase, plasma (DBH) ; Chromosome 9q34.2; Recessive

Orthostatic Hypotension 2 (ORTHYP2)

  Cytochrome b561 (CYB561) ; Chromosome 17q23.3; Recessive

Dopamine receptor D4

  Chromosome 11p15.5; Recessive

Orthostatic Hypotension, Streeten, Hereditary

  Chromosome 18q; Dominant

Aniridia, Type 2

  Paired box gene 6 (PAX6) ; Chromosome 11p13; Dominant

Achalasia-Addisonianism-Alacrimia (AAA) syndrome (Allgrove) 11

  AAAS (Aladin) ; Chromosome 12q13.13; Recessive

Achalasia-Alacrimia-Intellectual Dysfunction (AAMR) 32

  Guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA) ; Chromosome 2q35; Recessive

Autoimmune polyendocrinopathy-Candidiasis-Ectodermal dystrophy (APECED)

  Autoimmune regulator (AIRE) ; Chromosome 21q22.3; Recessive or Dominant

Postural Orthostatic Tachycardia Syndrome (POTS) 2


Hypotension in the elderly 6


Adult-onset Leukodystrophy (ADLD) 3

  Lamin B1 ; Chromosome 5q23.2; Dominant

Cold-Induced Sweating Syndrome 12

  Cytokine receptor–like factor 1 (CRLF1) ; Chromosome 19p13.11; Recessive

Cold-Induced Sweating Syndrome 2

  Cardiotrophin-like cytokine factor 1 (CLCF1) ; Chromosome 11q13.2; Recessive

Cold-Induced Sweating Syndrome 3/Crisopni-like) (CISS3)

  Kelch-like 7 (KLHL7) ; Chromosome 7p15.3; Recessive

Harlequin Syndrome

  • Definition
    • Dysautonomic (Sympathetic) syndrome
    • Lesion side: Anhidrosis
    • Contralateral side: Sweating with flush
  • Epidemiology: More common in females
  • Clinical
  • Causes
    • Idiopathic
    • Brainstem infarction
    • Pancoast lesion
    • Neurinoma: Superior mediastinal
    • Internal jugular vein catheterization
  • Pathology
    • Sympathetic axons: Postganglionic (Most) cervical
    • Parasympathetic neurons: Ciliary ganglion
    • Superior cervical ganglion

From: M Al-Lozi

From: R Bucelli

Neuronal Intranuclear (Hyaline) Inclusion Disease (NIID) 38

  Notch2 N-terminal-like C (NOTCH2NLC) ; Chromosome 1q21.2; Dominant or Sporadic

Hypotonia, Hyperventilation, impaired Intellectual development, Dysautonomia, Epilepsy & Eye Abnormalities (HIDEA)

  Prolyl 4-Hydroxylase, Transmembrane (P4HTM) ; Chromosome 3p21.31; Recessive

Dementia with Lewy bodies 20


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7/14/2021