Familial Dysautonomia (Riley-Day Syndrome)
M.D. Francesco Amenta in Peripheral Dopamine Pathophysiology, 2019
Familial dysautonomia (FD) is an inherited neurological disorder characterized by deficits in the peripheral sensory and autonomic systems. Almost all cases of FD occur in Jews of Ashkenazic extraction. The pattern of inheritance of FD is autosomal recessive and the disease tends to occur in siblings rather than in successive generations. A disturbance in catecholamine metabolism in patients with FD was first documented by the finding of high homovanillic acid and low vanillylmandelic acid urinary excretion rates indicating catecholamine insufficiency with shunting of the precursor to homovanillic acid. The finding of common autonomic symptoms in FD and in Parkinson’s disease has suggested a possible neurochemical link between these two diseases. Although the involvement of the catecholaminergic system has been well documented in the pathogenesis of FD, further investigations are needed to clarify the molecular mechanism by which a genetic alteration produces the variety of autonomic signs observed in FD.
Autonomic dysfunction
Andrew Lees in Parkinson's Disease in the Older Patient, 2018
Autonomic symptoms in Parkinson's disease (PD) were first reported in 1817 by James Parkinson himself. He described abnormalities of salivation and sweating, and dysfunction of the alimentary tract and urinary bladder. This chapter covers the differential diagnosis of dysautonomia in PD, and explains the investigations used to measure autonomic function in both clinical and research settings. It discusses the clinical implications of dysautonomia in PD and treatment options. Autonomic dysfunction is due to primary and secondary disorders. There are three primary causes of autonomic dysfunction in patients with definite extrapyramidal signs: idiopathic PD with autonomic failure, multiple system atrophy (MSA) and Lewy body dementia. Antiparkinsonian medications and other drugs may interfere with autonomic function. Orthostatic hypotension (OH) is a cardinal feature of autonomic dysfunction. Biochemical and pharmacological investigations are sometimes used in researching dysautonomia in PD, but are rarely required in the clinical setting.
Carrier Screening For Inherited Genetic Conditions
Vincenzo Berghella in Obstetric Evidence Based Guidelines, 2022
This chapter reviews carrier screening approaches, current society guidelines, genetic counseling principles, and some of the more common genetic conditions currently included in society screening guidelines. Screening for fragile X syndrome, Tay-Sachs disease, and other genetic conditions commonly affecting individuals of Jewish descent (Canavan disease and familial dysautonomia) are recommended on the basis of family history or background. The most common hemoglobinopathies-sickle cell disease, beta-thalassemia, and alpha-thalassemia-are all autosomal recessive conditions. Faulty chloride transport leads to increased sweat chloride levels and increased viscosity of secretions in the lungs, pancreas, biliary tree, and intestines. Preconception carrier screening maximizes patients’ reproductive choices and planning. The reporting of variants of uncertain significance and the creation of a repository of these findings and their associated phenotype is also an area of future interest as expanded carrier screening increases.
Comparison of long-term outcomes of patients with severe traumatic or hypoxic brain injuries treated with intrathecal baclofen therapy for dysautonomia
Published in Brain Injury, 2012
Xavier Hoarau, Edwidge Richer, Patrick Dehail, Emmanuel Cuny
Primary objective: To compare the long-term outcome of patients with severe traumatic brain injury and patients with hypoxic brain injury with dysautonomia and hypertonia treated with intrathecal baclofen therapy. Methods and procedures: Fifty-three patients with severe traumatic (n = 43/53) or hypoxic (n = 10/53) brain injuries treated by intrathecal baclofen therapy were included to be evaluated with the Coma Recovery Scale–Revised, the Barthel Index, the Glasgow Outcome Scale, the Ashworth scale, the scores of hypertonic attacks, of sweating episode and of voluntary motor responses. A retrospective analysis highlighted patients’ characteristics at admission and before surgery and their complications. Main outcomes and results: After a mean follow-up time of 9.6 years, 13/53 (24.5%) patients had died. Alive patients with traumatic brain injury had a higher level of consciousness recovery (p
Familial dysautonomia: a review of the current pharmacological treatments
Published in Expert Opinion on Pharmacotherapy, 2005
Treatment of familial dysautonomia, a genetic disorder affecting neuronal development and survival, has improved morbidity and survival for this disorder. Although this is primarily a neurological disorder causing sensory and autonomic dysfunction, there are secondary systemic perturbations affecting ophthalmological, gastrointestinal, respiratory, cardiovascular, orthopaedic and renal function. Penetrance is complete, but there is marked variability in expression. Preventative and supportive treatments have included measures to maintain eye moisture, fundoplication with gastrostomy, the use of central agents such as benzodiazepines and clonidine to control vomiting and the dysautonomic crisis, and fludrocortisone and midodrine to combat cardiovascular lability. With the identification of the familial dysautonomia gene, it has been suggested that it may be possible to treat patients by modifying production and exp-ression of the genetic product.
Cardiac autonomic denervation and expression of neurotrophins (NGF and BDNF) and their receptors during experimental Chagas disease
Published in Growth Factors, 2017
Natália Katley Oliveira, Rodrigo Novaes Ferreira, Sara Delaine Nogueira Lopes, Egler Chiari, Elizabeth Ribeiro da Silva Camargos, Patricia Massara Martinelli
Although cardiac dysautonomia is a distinctive feature of Chagas disease, its clinical and functional significance is still being speculated. Neurotrophic factors are potentially involved; however, studies of their effect in this infection are rare. Ultrastructural abnormalities in autonomic varicosities, levels of both nerve growth factor (NGF), and brain-derived neurotrophic factor (BDNF), as well as the expression of their receptors, were analysed in the heart of a rat model of Trypanosoma infection. Predominantly, at the early stage of the infection, cardiac autonomic varicosities displayed several signs of degeneration parallel to the elevation of cardiac levels of NGF, as well as expression of the receptors TrkA and p75NTR. For BDNF and TrkB, the changes were less conspicuous. Data obtained here can contribute to further clarify the factors related to the autonomic nervous system’s adaptive changes that could determine the evolution of different clinical forms of Chagas disease; mainly, the cardiac form.
Related Knowledge Centers
- Heart Rate
- Impotence
- Peripheral Nervous System
- Postural Orthostatic Tachycardia Syndrome
- Sweating
- Gastrointestinal Paresis
- Peripheral Nervous System Diseases