Kenneth Kee

Charcot Marie Tooth Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

Charcot-Marie-Tooth disease (CMT) is one of the most frequent inherited neurological disorders, involving about 1 in 2,500 people in the USA.
CMT, also termed hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, consists of a group of disorders that affect peripheral nerves.
Disorders that involve the peripheral nerves are called peripheral neuropathies.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous cluster of inherited peripheral neuropathies in which the neuropathy is the main effect of the disorder
The normal CMT phenotype affects distal limb muscle wasting and sensory loss, with proximal progression over time.
The disease course is different, indicating both genotypic and phenotypic heterogeneity.
Autosomal dominant inheritance is the most frequent mode of inheritance but autosomal recessive, and CMT X-linked (CMTX) forms have also been recognized.
Most autosomal dominant forms are of the CMT type 1 (CMT1) subgroup.
CMT1A is the most frequent type.
CMTX1 (X-linked, dominant) is the second most frequent type.
Online Mendelian Inheritance in Man (OMIM) gives detailed gene locus and abnormality data:
There are many forms of CMT disease, such as CMT1, CMT2, CMT3, CMT4, and CMTX.
The neuropathy of CMT involves both motor and sensory nerves.
Motor nerves produce muscles to contract and manage voluntary muscle activity such as speaking, walking, breathing, and swallowing.
A normal sign is weakness of the foot and lower leg muscles which may result in foot drop and a high-stepped gait with frequent tripping or falls.
Foot deformities, such as high arches and hammertoes (a disorder in which the middle joint of a toe bends upwards) are also normal signs due to weakness of the small muscles in the feet.
Also, the lower legs may have an inverted champagne bottle appearance because of the loss of muscle bulk.
Afterward in the disease, weakness and muscle atrophy may occur in the hands, resulting in problem with performing fine motor skills (the coordination of small movements typically in the fingers, hands, wrists, feet, and tongue).
The onset of symptoms is most often in adolescence or early adulthood, but some patients develop symptoms in mid-adulthood.
Even though in rare cases, patients may have respiratory muscle weakness, CMT is not considered a fatal disorder and people with most forms of CMT have a normal life expectancy.
In the neurological examination a doctor will check for presence of muscle weakness in the patient's arms, legs, hands and feet, reduced muscle bulk, decreased tendon reflexes, and sensory loss.
Doctors check for presence of foot deformities, such as high arches, hammertoes, inverted heel, or flat feet.
A specific feature that may be found in people with CMT1 is nerve enlargement that may be palpated through the skin.
These enlarged nerves, termed hyper-trophic nerves, are caused by abnormally thickened myelin sheaths.
If CMT is suspected, the doctor may require electrodiagnostic tests.
This testing is made of two parts: nerve conduction studies and electromyography (EMG).
A nerve biopsy requires excising a small piece of peripheral nerve through an incision in the skin
Treatment:
Presently there are no effective treatments to reverse or decrease the underlying disease process.
Supportive treatment is given based on rehabilitation and surgical corrections of skeletal deformities.
Orthotic devices and Night splinting are extensively used.
Painkillers and anticonvulsants are useful treatments.
TABLE OF CONTENT
Introduction
Chapter 1 Charcot Marie Tooth Disease
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Neuralgia
Chapter 8 Peripheral Neuropathy
Epilogue

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 18. April 2017
• Englisch
• ISBN-13: 9781370767625
• Artikelnr.: 48184447

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...