Kenneth Kee

A Simple Guide to Riley-Day Syndrome (Familial Dysautonomia), Diagnosis, Treatment and Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

This book describes Riley-Day Syndrome, Diagnosis and Treatment and Related Diseases

Riley-Day syndrome is an inborn nervous system dysfunction disorder affecting both sensory and autonomic nervous system.
In Riley Day syndrome, peripheral neuropathy is of the autonomic sensory type.
A child with Riley Day syndrome can cry without tears but with an emotional expression on the face.
This was most interesting for me.

Riley-Day syndrome is a nervous system disorder that involves both sensory and autonomic nervous system of the body.

This syndrome is an inherited disorder and hereditary transmission is autosomal recessive.

Riley-Day syndrome is an inborn nervous system dysfunction disorder and steadily progressive with rising age of the involved children.

At the time of birth, no classic dysmorphism is evident but slowly typical facial expression develops.

Abnormal genetic mutation is involved in the development of the disorder.

At the medical level, it can result in a wide range of signs and symptoms, all of them resulting from sensory dysfunction and considerable involvement of the autonomic nervous system

Riley-Day syndrome is also known as Familial dysautonomia, HSAN III

The Riley Day syndrome is a form of autonomic sensory neuropathy of genetic-hereditary origin that is part of the peripheral neuropathies, causing a dysfunction of the sensory and autonomic nervous structures as a result of a genetic change.

The peripheral neuropathy, also termed peripheral neuritis, is the name used to categorize a group of disorders that happens a result of the presence of one or more lesions in the nervous system due to disease or development of nerve injury peripherals.

This form of changes often produce events of localized pain in the extremities, hypotonia, spasms and muscle atrophy, loss of balance, in-coordination, loss of sensitivity, paresthesias, changes in sweating, dizziness, loss of consciousness or gastro-intestinal dysfunction besides others.

Particularly in the peripheral nervous system, its nerve fibers move out from the brain and spinal cord to the complete body surface (internal organs, skin areas, extremities etc.).

Its important function is bidirectional transmission of motor, autonomic and sensory information.

In Riley Day syndrome, peripheral neuropathy is of the autonomic sensory type.

At the genetic level, Riley Day syndrome is caused by the presence of a mutation on chromosome 9, distinctively in the localization (9q31)

Some symptoms are altered breathing, digestion, production of tears, arterial pressure changes, stimulus processing, taste, pain perception, temperature

Other symptoms are
Severe kyphoscoliosis means combination of abnormal outward and lateral curvature of the spine.
Short physique
Crying without tears but with an emotional expression is a typical distinctiveness of the Riley-Day syndrome.
Reduced taste sensation due to smooth and pale tongue surface
Chronic lung disease, which can cause aspiration problem
Muscle weakness

The diagnosis of the Riley-Day syndrome is based upon evaluation of dysfunction of sensory and autonomic nervous system.
Absence of tear secretion
Hypotonia
Chronic, episodic hypertensive attacks
Abnormal findings of histamine test on skin
Absence of fungiform papillae on the tongue

There is no curative treatment accessible for Riley-Day Syndrome due to its genetic origin.
The only treatment provided is to relieve the symptoms

TABLE OF CONTENT
Introduction
Chapter 1 Riley-Day Syndrome
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Peripheral Neuropathy
Chapter 8 Hyperkyphosis
Epilogue

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 3. Mai 2022
• Englisch
• ISBN-13: 9781005444778
• Artikelnr.: 75904494

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...