Presentation
Focal arteriolar narrowing Absent 112 (10.5) 1.0 174 (16.3) 1.0 296 (27.6) 1.0 Present 14 (8.5) 0.8 (0.4–1.6) 20 (12.2) 0.7 (0.4–1.3) 72 (43.9) 1.5 (0.9–2.4) Arteriovenous nicking Absent 89 (9.4) 1.0 150 (15.9) 1.0 270 (28.6) 1.0 Present 34 (12.3) 1.4 [stroke.ahajournals.org]
We report a typical case of a patient with PCA who presented initially with visuospatial deficit and apraxia. [omicsonline.org]
Systemic Features: Severe hypotonia is present at birth often causing respiratory distress in the neonate. Spasticity can develop later. Growth failure with progressive microcephaly is present in infants. [disorders.eyes.arizona.edu]
Atrophy of these areas of the brain often initially present as personality and behavior changes, whereas Alzheimer's disease often initially affects memory. [verywell.com]
Patients having seizures may present with convulsions, uncontrollable shaking, repetitive movements, or disorientation. [healthguideinfo.com]
Entire Body System
- Anemia
In addition to megaoblastic anemia, physical, social and neuromotor retardation may be seen in affected patients. In severe cases, thrombocytopenia and neutropenia may accompany anemia mimicking leukemia or aplastic anemia. [scopemed.org]
Anemia and risk of dementia in older adults: findings from the Health ABC study. Neurology, 81, 528 – 533. doi: 10.1212/WNL.0b013e31829e701d. Im, K. et al. ( 2006 ). [cambridge.org]
[…] developmental delay Hepatic encephalopathy Methemoglobinemia Temporal cortical atrophy Elevated plasma branched chain amino acids Abnormal cardiac ventricular function Hyperisoleucinemia Increased urine alpha-ketoglutarate concentration Athetoid cerebral palsy Anemia [mendelian.co]
- Failure to Thrive in Infancy
Failure to thrive in infancy Chronic kidney disease Hyperactivity Hyponatremia Increased CSF lactate Severe muscular hypotonia Delayed myelination Cortical visual impairment Thickened ribs Wide mouth Developmental stagnation at onset of seizures Cryptorchidism [mendelian.co]
Respiratoric
- Pneumonia
European Carotid Surgery Trialists 33 ページ - Guidelines for the initial management of adults with community-acquired pneumonia: diagnosis, assessment of severity, and initial antimicrobial therapy. 213 ページ - Goldstein SR, Nachtigall M, Snyder JR, Nachtigall [books.google.com]
[…] infections Thickened calvaria Renal dysplasia Growth abnormality Hirsutism Epileptic encephalopathy Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Pachygyria Decreased liver function Corneal opacity CNS hypomyelination Pneumonia [mendelian.co]
Liver, Gall & Pancreas
- Hepatomegaly
Diseases related with Hepatomegaly and Cerebral cortical atrophy In the following list you will find some of the most common rare diseases related to Hepatomegaly and Cerebral cortical atrophy that can help you solving undiagnosed cases. [mendelian.co]
Musculoskeletal
- Muscle Weakness
Muscle Weakness: Some regions of the brain are responsible for maintaining muscle tone, and when they are affected weakness or poor muscle tones and reflexes usually results. [healthguideinfo.com]
When a person complains of muscle weakness, the doctor checks muscles for bulk and texture and for tenderness. Muscles are also checked for twitches and involuntary movements, which may indicate a nerve disease rather than a muscle disease. [my-ms.org]
weakness Peripheral demyelination Ventriculomegaly Abnormality of metabolism/homeostasis Neurological speech impairment Nevus Babinski sign Recurrent respiratory infections Respiratory tract infection Abnormality of the cerebral white matter Abnormality [mendelian.co]
Axial hypotonia is present from early infancy and most patients have muscle weakness and atrophy. However, there may be spastic quadriplegia which is often associated with dysmetria, tremor, and athetosis. [disorders.eyes.arizona.edu]
- Foot Deformity
Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. [mendelian.co]
Neurologic
- Tremor
Intention Tremors: Involuntary trembling of the hand when pointing or reaching an object, like a button or doorbell, is a typical example of intention tremor. The tremors usually stop when the affected hand or body part is at rest. [healthguideinfo.com]
Classic pill-rolling rest tremor is uncommon. MSA-c is a form of MSA with predominant cerebellar features such as gait and limb ataxia, oculomotor dysfunction and dysarthria. [orpha.net]
They occur in the young to middle-aged and are characterized by ataxia, dysarthria, and tremors similar to those of parkinsonism. progressive neuromuscular atrophy hereditary muscular atrophy beginning in the muscles supplied by the fibular (peroneal) [medical-dictionary.thefreedictionary.com]
[…] involvement, which is expressed in many ways, including infarction, intracerebral hemorrhage, aneurysms, cerebral atrophy, aseptic meningitis, pseudotumor cerebri, convulsions, cranial nerve palsies, visual loss, intractable headaches, peripheral neuropathy, tremor [rheum-care.com]
Abnormality of eye movement Neuronal loss in central nervous system Abnormality of the periventricular white matter Emotional lability Hyperkinesis Astrocytosis CNS demyelination Abnormality of glycosphingolipid metabolism Generalized clonic seizures Tremor [mendelian.co]
- Hyperreflexia
In some cases, pyramidal signs (generalized hyperreflexia and positive Babinski sign) are observed. [orpha.net]
[…] stagnation Ovoid thoracolumbar vertebrae Pallor Dense calvaria Nystagmus Abnormal facial shape Blindness Inguinal hernia Midface retrusion Hernia Absent speech Mandibular prognathia Visual loss Feeding difficulties in infancy Retinal degeneration Lower limb hyperreflexia [mendelian.co]
Microcephaly is often present and there may a profound delay in psychomotor development with truncal hypotonia and hyperreflexia in the limbs. Brain imaging shows generalized atrophy with decreased myelination. [disorders.eyes.arizona.edu]
- Mental Deterioration
Four Clinical Cases Who Mentally Deteriorated 1. A 25-year-old female was referred with severe chronic pain due to fibromyalgia. She claimed undertreatment for at least three years which interfered with her promising career. [practicalpainmanagement.com]
- Akinesia
Cardioembolic infarction was defined to include atrial fibrillation, intracardiac thrombus or tumor, rheumatic mitral stenosis, prosthetic valves, endocarditis, sick sinus syndrome, left ventricular aneurysm or akinesia after acute myocardial infarction [stroke.ahajournals.org]
- Delayed Speech and Language Development
speech and language development Renal tubular acidosis Tics Hypoventilation Hyperkalemia Dementia Synophrys Renal cyst Hepatic steatosis Respiratory failure Failure to thrive in infancy Chronic kidney disease Hyperactivity Hyponatremia Increased CSF [mendelian.co]
Urogenital
- Urinary Incontinence
Clinical manifestations include autonomic failure (orthostatic hypotension, syncope, respiratory disturbances (sleep apnea, stridor and inspiratory sighs), constipation, bladder dysfunction (early urinary incontinence), erectile dysfunction in males and [orpha.net]
Treatment
RESULTS: Average age of the group of patients studied was 48+/-9.7 years, and average duration of psychiatric treatment was 6+/-7.3 years. [ncbi.nlm.nih.gov]
Treatment Treatment Options: No treatment is available. [disorders.eyes.arizona.edu]
Cerebral Atrophy treatment in Ayurveda According to Ayurveda, cerebral atrophy is caused due to disruption in the vata dosha, which controls the motor and sensory activities in the body. [nirogam.com]
People should also stay active mentally and socially. × Treatment There is no specific treatment or cure for cerebral atrophy. Some symptoms of underlying causes can be managed and treated. [ninds.nih.gov]
It is now clear that the risk-benefit ratio of aggressive treatment versus moderate treatment—which leaves the patient with some degree of constant pain—needs to be reevaluated. [practicalpainmanagement.com]
Prognosis
Disorders such as stroke can affect a person's quality of life and lifespan. x Prognosis Cerebral atrophy can affect a person's lifespan. [ninds.nih.gov]
Prognosis is poor with a median survival of 6-9 years. The documents contained in this web site are presented for information purposes only. [orpha.net]
Therapy and prognosis. Am J Med 1975;58:644-654 2. Abel T, Gladman D, Urowitz M. Neuropsychiatric lupus. J Rheumatol 1980;7:325-333 3. Hughes G. Central nervous system lupus-diagnosis and treatcment. J Rheumatol 1980;7:405-41 1 4. [rheum-care.com]
Etiology
Although high doses of steroids may have been responsible for some of the lesions, alternate etiologies are required to explain the abnormality in others cases. [ncbi.nlm.nih.gov]
Etiology Etiology of MSA is unknown but presence of cytoplasmic aggregates of α-synuclein, primarily in oligodendroglia, in combination with neurodegeneration in striatonigral and olivopontocerebellar structures are the pathological hallmark features. [orpha.net]
The ischemic stroke subtypes were classified into 5 core etiologic groupings: large vessel atherosclerosis; small vessel (lacunar); cardioembolic infarction; stroke of other etiology; and stroke of undetermined etiology or competing causes determined [stroke.ahajournals.org]
The clinical cerebral manifestations of SLE were termed ”cerebritis” and included any abnormality of central neurologic function with a change from the prior state in the absence of other possible etiologies. [rheum-care.com]
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]
Epidemiology
Summary Epidemiology Prevalence ranges from 1/50,000-1/20,000. MSA-parkinsonian type (MSA-p) predominates in the Western Hemisphere and MSA-cerebellar type (MSA-c) predominates in the Eastern Hemisphere. Genders are equally distributed. [orpha.net]
Annals of Epidemiology, 7, 219 – 224. Biessels, G. J., De Leeuw, F. E., Lindeboom, J., Barkhof, F. and Scheltens, P. ( 2006 ). Increased cortical atrophy in patients with Alzheimer's disease and type 2 diabetes mellitus. [cambridge.org]
In addition, epidemiological studies do not have detailed MRI phenotypic assessment so that differences between cortical and subcortical cerebral atrophy cannot be fully investigated in population-based studies. [stroke.ahajournals.org]
Pathophysiology
Retinal microvascular signs: a key to understanding the underlying pathophysiology of different stroke subtypes? Int J Stroke. 2008 ; 3 : 297–305. [stroke.ahajournals.org]
Although the study was not powered to assess the role of T2DM, the results suggested that glucose dysregulation may contribute to the pathophysiology of Alzheimer disease ( 32 ). [care.diabetesjournals.org]
In addition, studies of atrophy in different brain regions, and in patients with different MS phenotypes, are providing important new insights into the pathophysiology of the degenerative processes occurring in MS. [smw.ch]
Prevention
Experts are still trying to figure out the answers to this question, and research into the prevention of cerebral SVD is ongoing. [betterhealthwhileaging.net]
This type of atrophy is preventable and often reversible if steps to improve B12 levels are implemented. [livestrong.com]
All parties must be educated about this fact and aggressively attempt to prevent brain atrophy in chronic pain patients. [practicalpainmanagement.com]
Regular practice of pranayama can prevent further degenerative process. It is better to consult an Ayurvedic doctor personally and undergo proper therapies. You may find some positive changes within 6 months to 1 year. Subscribe to our newsletter! [nirogam.com]
"Currently there are no treatments that will prevent or cure Alzheimer's disease, but information about risk of rapid decline may help patients with MCI and their families plan for the future," Dr. McEvoy said. [sciencedaily.com]