Modelling pathogenesis and treatment of familial dysautonomia
using patient-specific iPSCs.
42% of the patients had cranial nerve involvement, 36% had dysautonomia
and 24% requires mechanical ventilation in our study.
Neuroleptic malignant syndrome (NMS) is an uncommon but potentially fatal idiosyncratic reaction to neuroleptics, characterized by a distinctive clinical syndrome of mental status change, rigidity, fever, and dysautonomia
A novel perspective is that Parkinson's disease is not only a movement disorder with dopamine loss, but also a dysautonomia
with norepinephrine loss in the sympathetic nervous system of the heart (Goldstein, 2014).
In severe cases the release of tetanolysin and tetanospasmin can lead to respiratory failure and hemodynamic instability associated with dysautonomia
Affected patients present with painful neuropathic symptoms and / or dysautonomia
These diseases include Tay-Sachs disease, Canavan, Niemann-Pick, Gaucher, familial dysautonomia
, Bloom syndrome, Fanconi anemia, cystic fibrosis, and mucolipidosis IV.
leads to damage of vascular autonomic innervations in the skin followed by a loss of vascular tone which results in stasis of capillary blood flow and consequently delayed ulcer healing.
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia
(neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
7] found that patients with cardiac dysautonomia
have higher resting heart rates and lower maximal heart rates during exercise than diabetic patients without autonomic neuropathy.
In addition to obligatory symptoms associated with progressive cognitive impairment, the disease also presents with behavioral and neuropsychiatric symptoms, motor disturbances, and dysautonomia
Keywords: autonomic storming, brain injury, central autonomic dysfunction, dysautonomia
crises, paroxysmal sympathetic hyperactivity