Presentation
Neurodegenerative disorders can present at any age, with manifestations varying with the age of presentation. [pedsinreview.aappublications.org]
Classic CJD characteristics, as compared to variant CJD, are presented in the table below. [web.archive.org]
For years, he presented with only a speech production impediment that clinical observations and experimental studies enabled us to identify as a phonological buffer disorder. [ncbi.nlm.nih.gov]
The Burton Experience has been that actual incidence appears to be closer to 20-40% of those presenting with back pain problems. [burtonreport.com]
Entire Body System
- Weakness
Typical symptoms include: Progressive muscle weakness that occurs on both sides of the body symmetrically (for example, in both shoulders). [muirortho.com]
[…] disorder is characterized clinically by behavioral abnormality, peculiar involuntary movements, and ataxia starting in early childhood and subsequent development of dementia, choreoathetosis, rectal and bladder incontinence, bulbar and spinal muscular weakness [ncbi.nlm.nih.gov]
Patients may experience major memory loss and changes in personality or behavior, or they may suffer from problems with movement, balance, speech, and muscle weakness. [alleydog.com]
Decreased lung function due to weak breathing muscles 0002747 Seizures Seizure 0001250 Sensorineural hearing impairment 0000407 Showing of 35 | Last updated: 6/1/2019 There is currently no cure for cytochrome C oxidase (COX) deficiency. [rarediseases.info.nih.gov]
Signs & Symptoms Signs and symptoms of many degenerative disorders of the spine include pain in the back or neck and in the arms or legs, numbness, tingling, weakness, paralysis, muscle wasting, and abnormal reflexes. [orthoneuro.com]
- Weight Loss
Cachexia is characterized by unintended weight loss, muscle weakness and fatigue. It is not a disease by itself but rather a symptom for other affections such as cancer or aids. [anagenesis-biotech.com]
Drooling, unintentional weight loss and swelling of the feet, ankles or legs are other symptoms affecting amyotrophic lateral sclerosis sufferers. MedlinePlus says that 10 percent of people suffering with disease have a genetic defect. [livestrong.com]
Weight loss reduces the stress on the affected joints, increases flexibility, and reduces the pain in the joint. A registered dietician or nutritionist can help you with the right weight loss diet to reduce weight and keep up a healthy weight. [healthpages.org]
Degenerative spine conditions all involve a loss of normal structure and function in the spine. Degenerative means that the cause of these changes is age-related wear and tear. The changes are not due to trauma, infection, or some other cause. [columbianeurosurgery.org]
- Surgical Procedure
There is no standard surgical procedure in the management of keratoglobus. Reports of surgical results are limited by the rarity of the condition. [doi.org]
If you have been diagnosed with degenerative disc disease and are interested in minimally invasive surgical procedures to treat your symptoms, contact Laser Spine Institute today and ask for a free MRI review* to find out if you are a candidate for our [laserspineinstitute.com]
Ross Hauser, MD In this article Ross Hauser MD will explain the non-surgical treatment advantages of Degenerative Joint Disease or as it is better known – osteoarthritis. [caringmedical.com]
The latest non-surgical procedure available arthritis pain sufferers is a selective arterial embolization. It works by decreasing the inflammation within the knee by minimizing the blood supply to the synovium. [howardluksmd.com]
- Short Stature
Non-Immune Hydrops fetalis and congenital ascites Children most commonly present with hepatosplenomegaly, coarse facial features, developmental delay, short stature and/or dysostosis multiplex (characteristic radiographic changes due to abnormal skeletal [pedclerk.bsd.uchicago.edu]
People with this type typically have short stature ; thin scalp hair; and characteristic facial features including large eyes, a thin nose, and lobeless ears. [rarediseases.info.nih.gov]
Short stature and hearing loss may be present and fatigue and difficulty tolerating exercise may be early symptoms. [rarediseases.org]
Dysmorphic syndromes • Cohen syndrome associates RP to a particular facial dysmorphism (prominent upper incisors) with short stature, mental retardation, long and narrow hands, and neutropenia. [doi.org]
- Military Personnel
More recently case reports demonstrate pathologically confirmed CTE in former combat military personnel and contact sport athletes other than boxers. [doi.org]
Gastrointestinal
- Muscle Rigidity
Patients with Parkinson's, depending on the progression of their condition, often exhibit muscle rigidity, difficulties walking and performing other basic tasks, and distinctive tremors. [en.wikiversity.org]
Such motor abnormalities include muscle rigidity and the inability to perform purposeful or voluntary movements (apraxia). [rarediseases.org]
Parkinson's produces many common symptoms, including tremor; muscle rigidity or stiffness of the limbs; gradual loss of spontaneous movement, often leading to decreased mental skill or reaction time, voice changes or decreased facial expression; gradual [aans.org]
Musculoskeletal
- Osteoporosis
Osteoporosis Osteoporosis commonly affects the thoracic and thoracolumbar regions of the spine and may cause debilitating pain. This disorder is caused by a loss of bone mineral density resulting in fragile bones, which may fracture. [ortho-spine.com]
Parathyroid hormone and raloxifene are other treatments for osteoporosis. [livestrong.com]
View Article PubMed Google Scholar Verstraeten A: Osteoarthrosis retards the development of osteoporosis. Observation of the coexistence of osteoarthrosis and osteoporosis. Clin Orthop Relat Res. 1991, 264: 169-177. [doi.org]
Osteoporosis Osteoporosis is the degenerative disease that gradually erodes bone mineral density, leaving people weak and unable to function properly in their daily life. [organicfacts.net]
Psychiatrical
- Suggestibility
Since relatively little cerebral cortical atrophy was noted in this patient, these findings suggest that an intact cerebellum is important for normal cognitive functions. [ncbi.nlm.nih.gov]
We suggest models to address roadblocks in clinical translation hoping that these would be beneficial to drive AMD research towards innovative biomarkers and therapeutics Therefore, addressing the need large autopsy studies and combining it with efficient [doi.org]
Report an error or suggest an improvement. [wordreference.com]
- Loss of Attention
Interviews with relatives and loved ones of brain donors pointed to these symptoms: Stage 1 – Headache and loss of attention and concentration. Stage 2 – Depression, explosive behaviour and short-term memory loss. [cbc.ca]
- Head Banging
Of the 85 men with histories of repetitive mild traumatic brain injury, researchers found evidence of CTE in 68, including 64 athletes, 21 military veterans and one person who showed head-banging behaviour. Dr. [cbc.ca]
- Aggressive Behavior
Bäckman et al [2005] found that some individuals with JNCL experience multiple psychiatric problems including disturbed thoughts, attention problems, somatic complaints, and aggressive behavior. Depression was uncommon. [ncbi.nlm.nih.gov]
Neurologic
- Stroke
Synonyms of MELAS Syndrome Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke General Discussion MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like [rarediseases.org]
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs. 2006;20(6):443-64. Koga Y, Akita Y, Nishioka J, et al. [web.archive.org]
They may be genetic or be caused by a tumor or stroke. Neurodegenerative disorders also occur in people who drink large amounts of alcohol or are exposed to certain viruses or toxins. [cancer.gov]
Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is not known. [nlm.nih.gov]
- Tremor
Botox injections help block the communication between the nerve and the muscle and may lessen tremor. If the tremor is so severe that is causes a disability, surgery may be recommended. [aans.org]
[…] nervous disorder involving loss of myelin sheath around certain nerve fibers Parkinson's, Parkinson's disease, Parkinson's syndrome, Parkinsonism, paralysis agitans, shaking palsy a degenerative disorder of the central nervous system characterized by tremor [vocabulary.com]
Learn ways that tremor used to prevent a man from certain activities until DBS improved his daily life. New research suggests that language tests could aid early diagnosis of debilitating dementia. [brainfacts.org]
Degenerative and age-related disorders, such as Parkinson’s disease, can affect the central nervous system causing postural instability, tremors at rest, stiffness and a general slowing of movement. [drlemmobraincentre.com]
- Irritability
Nerve testing ( EMG / electromyogram and NCV/nerve conduction velocity) of the lower extremities can be used to detect the nerve irritation. [medicinenet.com]
The pain may derive from damage, irritation or pressure upon nerves within and around the spinal area. [spinal-foundation.org]
[…] abnormalities of the brain and in which a major disturbance of emotions is predominant generalized anxiety disorder an anxiety disorder characterized by chronic free-floating anxiety and such symptoms as tension or sweating or trembling or lightheadedness or irritability [vocabulary.com]
[…] of this form, which predominantly involve the central nervous system, may begin between three months and two years of age and may include loss of previously acquired motor skills and/or head control; poor sucking ability; loss of appetite; vomiting; irritability [web.archive.org]
- Headache
Initially after the fusion the headaches and tinlging went away and then 4 months later, while in a PT work conditioning prorgam, the headaches returned, along with nausea, vomiting and vertigo. [medical-dictionary.thefreedictionary.com]
Interviews with relatives and loved ones of brain donors pointed to these symptoms: Stage 1 – Headache and loss of attention and concentration. Stage 2 – Depression, explosive behaviour and short-term memory loss. [cbc.ca]
The most common symptoms of cancer are persistent headaches, fatigue, nausea, chronic pain, repeated infections, and persistent fever. [docdoc.com.sg]
Sometimes headaches result from cervical degenerative disc problems. Lumbar disc degenerative disorder can be associated with low back pain. It would typically be a weight-bearing type of back pain with severe pain on sitting. [neurosurgery.ucla.edu]
- Encephalopathy
Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr. 1999;134:696-700. Singh SK, et al. MELAS syndrome. Indian J Pediatr. 1999;66:621-625. Deschauer M, et al. [web.archive.org]
However, it was agreed that chronic traumatic encephalopathy (CTE) represents a distinct tauopathy with an unknown incidence in athletic populations. [doi.org]
Synonyms of MELAS Syndrome Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke General Discussion MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like [rarediseases.org]
Abnormal tau protein (brown) in a brain sample in chronic traumatic encephalopathy (CTE), on left and Alzheimer’s disease (AD), right. [newsnetwork.mayoclinic.org]
Workup
Diagnostic Workup Examination must first address possible radicular pain to the shoulder that actually originates from the cervical spine. [clinicaladvisor.com]
[…] present with chronic respiratory muscle weakness should have a thorough evaluation to rule out ALS, as the onset of these symptoms are found in about 3% of ALS patients.[ 235 ] Diagnostic tests There is no single or absolute test for ALS, but an extensive workup [dx.doi.org]
Other Pathologies
- Neurofibrillary Tangle
In this video he explains the plaques and tangles behind Alzheimer’s Disease. Neurofibrillary tangles in the brain may foreshadow trouble. Healthy synapses may be the secret to fighting Alzheimer's disease. [brainfacts.org]
In Alzheimer's disease, work done in Cambridge was the first to show that the microtubule-associated protein tau is the major component of the filaments that form the neurofibrillary tangles in this disease and other tauopathies. [neuroscience.cam.ac.uk]
tangle; PD: Parkinson's disease; SP: Senile plaque THE UBIQITIN-PROTEASOME AND LYSOSOMAL SYSTEM IN NEURODEGENERATIVE DISEASES Protein recycling in cells is done by 2 systems, the ubiquitin-proteasome system (UPS) and the lysosomal system. [neuropathology-web.org]
Neurofibrillary tangles similar to AD are seen but not the density of senile plaques which are generally observed in AD. [doi.org]
Treatment
Treatment for polymyositis With several years of treatment, it may be possible for the symptoms of polymyositis to be significantly reduced or eliminated. [muirortho.com]
Here, we discuss disease mechanisms and treatment strategies for chronic progressive MS. [doi.org]
(Also called nonoperative treatments.) Surgical treatments: Surgical treatment is necessary to treat compression that causes myelopathy and certain cases of radiculopathy. [columbianeurosurgery.org]
Solving this mystery will pave the way to improve the current available treatment options or create new treatments that not only relieve the symptoms, but also cure the disease itself. [docdoc.com.sg]
Prognosis
Treatment and Prognosis Therapies for most lysosomal storage diseases are limited. In the past, treatment has focused on supportive care and symptomatic management. [pedclerk.bsd.uchicago.edu]
Estimated 196 million people with AMD worldwide 2040 Estimated 288 million people with AMD worldwide THE MARKET FOR RETINAL DISEASE THERAPIES Within the family of “retinal degenerations” there are multiple known diseases which differ in their pathology, prognosis [nano-retina.com]
For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins. [9] Last updated: 12/15/2014 The long-term outlook ( prognosis [rarediseases.info.nih.gov]
PROGNOSIS • • • • • It is a progressive disease. Mean time from diagnosis to death is 1 year. Most patients die within 3 to 5 years of onset of illness. Younger patients & those with bulbar symptoms show a more rapid course. [slideshare.net]
Etiology
Another major theme in the research on etiology of HD is the disturbance of cell metabolism. [ncbi.nlm.nih.gov]
In specific reference to JDD its primary etiology appears to be that of failure of normal spine development early in the fetal process of differentiation. [burtonreport.com]
However, we are still left with a large number of progressive diseases of unknown etiology, and their classification is based on pathologic and clinical findings. [dartmouth.edu]
There are a wide range of medical interventions required for CF patients (summarized in Table 1 ) which have to be tailored to the individual patient and which depend on their specific symptoms, disease etiology, age and general health. [doi.org]
Epidemiology
Depression and anxiety in individuals with amyotrophic lateral sclerosis: Epidemiology and management. CNS Drugs. 2007. 21: 279-91 157. Kurtzke JF. Epidemiology of amyotrophic lateral sclerosis. Adv Neurol. 1982. 36: 281-302 158. [dx.doi.org]
Epidemiologic and a few prospective studies suggest that there may be some element of inflammation in the condition and some have suggested excess oxidation as a contributing factor. [dartmouth.edu]
EPIDEMIOLOGY • The incidence of MND is approximately 1–5 out • • • • of 100,000 people. Men have a slightly higher incidence rate than women. Mostly presents in 4th or 5th decade. Cases under the age of 50 years are called "young onset MND“. [slideshare.net]
Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management. CNS Drugs 2012 ; 26 : 841 -70. ↵ Vercelletto M, Boutoleau-Bretonnière C, Volteau C, Puel M, Auriacombe S, Sarazin M, et al. [doi.org]
PMID 22575403. v t e Longevity Ageing Old age Senescence aging-associated diseases degenerative diseases negligible senescence Gerontology cognitive epidemiology Centenarian supercentenarian Life expectancy Maximum life span Biomarkers of aging FOXO3 [en.wikipedia.org]
Pathophysiology
Determining whether schizophrenia is a neurodegenerative illness with progressive structural changes in the brain after debut of the illness, or a neurodevelopmental disorder starting in early life, is of significant importance for understanding the pathophysiology [ncbi.nlm.nih.gov]
Risk Management » Volume 11 Review Isabel S Bazan, Wassim H Fares Department of Internal Medicine, Section of Pulmonary, Critical Care and Sleep Medicine, Yale University, New Haven, CT, USA Abstract: Pulmonary hypertension (PH) is a hemodynamic and pathophysiologic [doi.org]
More information about the gene products and understanding of pathophysiological mechanisms will open the way to specific treatments. The most common degenerative disease is Alzheimer's disease and the second most frequent is Parkinson's disease. [neuropathology-web.org]
Progressive supranuclear palsy and corticobasal degeneration: Pathophysiology and treatment options. Current Treatment Options Neurology. 2016, September 2016. [theaftd.org]
Prevention
Because of the progression of neurologic deficit he required prompt surgical discectomies followed by a preventive spine program. [burtonreport.com]
Keywords: SSPE, progressive, vaccine, preventable This work is published and licensed by Dove Medical Press Limited. [doi.org]
People suffering a degenerative disease typically develop physical and mental problems that prevent them from taking proper care of themselves and their surroundings. [allhandshomecare.com]
Learn ways that tremor used to prevent a man from certain activities until DBS improved his daily life. New research suggests that language tests could aid early diagnosis of debilitating dementia. [brainfacts.org]