See our disclaimer. Electrical Disease of the Heart, 2nd Edition, volume 1, provides a valuable insight to the latest developments in the field of cardiac electrophysiology and clinical electrocardiology. Each chapter includes up-to-date results of studies aimed at providing an understanding of the electrical function of the heart in health and disease, established and evidence-based knowledge of clinical outcomes, areas of controversy, and future trends. This book is highly relevant to a broad audience, ranging from medical and graduate students, to clinicians and scientists.
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- Selected Letters of Sir J. G. Frazer!
- Rare Disease Database.
- Types of Mitochondrial Disease – UMDF!
MRI lesions in the basal ganglia can mimic Leigh syndrome as well as one of the NBIA disorders neurodegneration with brain iron accumulation. Common symptoms: movement disorder dystonia, spasticity, chorea, ataxia in childhood, reduced vision, difficulty with speech dysarthria , balance issues.
Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia. MERRF is a progressive multi-system syndrome usually beginning in childhood, but onset may occur in adulthood. The rate of progression varies widely.
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Onset and extent of symptoms can differ among affected siblings. Although a few cases of MERRF are sporadic, most cases are maternally inherited due to a mutation within the mitochondria. While a mother will transmit her MERRF mutation to all of her offspring, some may never display symptoms. Management of seizures usually requires anticonvulsant drugs. Medications for control of other symptoms may also be necessary. The prognosis for MERRF varies widely depending on age of onset, type and severity of symptoms, organs involved, and other factors. Symptoms: encephalopathy, balance problems, ataxia, epilepsy, cognitive impairment, psychiatric symptoms, eye movement disorders, involuntary movements, peripheral neuropathy.
Mitochondrial Cytopathy Mitochondrial Cytopathy. General classification for mitochondrial diseases. All diseases listed here are mitochondrial cytopathies. Symptoms: Three forms: 1. Congenital myopathy: Neonatal weakness, hypotonia requiring assisted ventilation, possible renal dysfunction. Severe lactic acidosis.
Prominent ragged-red fibers. Death due to respiratory failure usually occurs prior to one year of age. Infantile myopathy: Following normal early development until one year old, weakness appears and worsens rapidly, causing respiratory failure and death typically within a few years. Hepatopathy: Enlarged liver and intractable liver failure, myopathy. Death is typical within the first year.
Symptoms: Progressive external ophthalmoplegia, limb weakness, peripheral neuropathy, digestive tract disorders, leukodystrophy, lactic acidosis, ragged red fibers. Leigh Syndrome may result if the percentage of mutation is high enough. Inheritance is usually sporadic. Those who survive infancy usually develop Kearns-Sayre Syndrome. Less common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem. Also: growth delay, hypotonia, seizures, and polyneuropathy. Sometimes found to be the cause of Leigh Syndrome.
Symptoms: Various manifestations, ranging from fatal infantile encephalopathy to recurrent myoglobin in the urine, similar to the myopathic form of CPT II deficiency. Disease Specific Web Pages:. Mitochondrial Disease Capsules:. Long name: Progressive Infantile Poliodystrophy.
Cause: X-linked recessive. Carnitine-Acyl-Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting. Cause: Autosomal recessive. Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting. Co-Enzyme Q10 Deficiency Symptoms: Encephalomyopathy, mental retardation, exercise intolerance, ragged-red fibers, and recurrent myoglobin in the urine.
Cause: Probably autosomal recessive. There are three major forms of Complex I deficiency: 1.
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Cause: Autosomal. Symptoms: Four major forms: 1. Symptoms: Two major forms: 1. Symptoms: Slow, progressive myopathy. Treatment: Medium-chain triglycerides. Treatment — Non-Infantile: High carbohydrate, low-fat diet. Cause: Most cases are due to large mitochondria DNA deletions. Lactic Acidosis Cause: The accumulation of lactic acid due to its production exceeding its use.
LBSL — Leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation LBSL is a result of a DARS2 gene mutation and is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction decreased position and vibration sense. Treatment: See Beta-oxidation Defects. Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia. Mitochondrial Cytopathy General classification for mitochondrial diseases.
Bartter Syndrome - NORD (National Organization for Rare Disorders)
Includes: Encephalomyopathy, Encephalomyelopathy. Pearson Syndrome Symptoms: Bone marrow and pancreas dysfunction. Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive. Common symptoms: seizures and spasticity. Write a review. Ask a question. Pricing policy About our prices. We're committed to providing low prices every day, on everything. So if you find a current lower price from an online retailer on an identical, in-stock product, tell us and we'll match it. See more details at Online Price Match. Email address.
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Related Electrical Diseases of the Heart: Volume 1: Basic Foundations and Primary Electrical Diseases
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