Abstract We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. [ncbi.nlm.nih.gov]

Barton First published January 1, 1992, DOI: Abstract We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. [neurology.org]

Development was normal until age 3 years, when spasticity began in the lower extremities and this was followed by language deterioration, generalized dystonia, orofacial dyskinesia, progressive dementia, and deterioration of visual acuity. [pediatricneurologybriefs.com]

Progressive dementia occurs in atypical pantothenate kinase–associated neurodegeneration. The one-to-one correlation between a specific radiographic finding, the eye-of-the-tiger sign, and mutations in a single gene, PANK2, is extraordinary. [nejm.org]

dementia, dystonia, spasticity, pallidal and retinal degeneration) with acanthocytosis; and (4) HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration with iron deposition). [medtextfree.wordpress.com]

I give credit for my discovery of TMS to Jeff Galloway, whom I met at his Tahoe running camp in 2003. I was a bit of a mess. Galloway listened with earnest sympathy. Then he said, “There is a book you might want to read.” ( Healing Back Pain by Dr. [cynthiakuni.wordpress.com]

She went camp in the summers and had a tight group of friends that included her sister Mari. When she got upset at her older sister, Lillie, she'd dump all Lillie's belongings from their shared bedroom into the hallway. [indystar.com]

Common symptoms in women with the HELLP syndrome include a general feeling of feeling unwell (malaise), nausea and/or vomiting, and pain in the upper abdomen. Increased fluid in the tissues ( edema ) is also frequent. [medicinenet.com]

Skin lesions of Sweet’s syndrome are often accompanied by signs of systemic inflammation: fever, malaise, arthralgias, and blood markers of inflammation such as leukocytosis or elevated erythrocyte sedimentation rate. [derm101.com]

When compared with placebo, simvastatin did not significantly reduce the number of ventilator-free days in patients presenting with acute respiratory distress syndrome. 2. [2minutemedicine.com]

Such a definition was developed in 1994 by the American-European Consensus Conference (AECC) on acute respiratory distress syndrome (ARDS). [2] The term “acute respiratory distress syndrome” was used instead of “adult respiratory distress syndrome” because [emedicine.medscape.com]

The Acute Respiratory Distress Syndrome Network. Ventilation with lower tidal volumes as compared with traditional tidal volumes for acute lung injury and the acute respiratory distress syndrome. N Engl J Med 2000 ;342: 1301 - 1308 10. [nejm.org]

[…] acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia [ncbi.nlm.nih.gov]

An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign. [pediatricneurologybriefs.com]

Some family members with no epilepsy but with milder features, such as tics and dysphagia for example, may be representative of heterozygous expression of the deletion, suggesting that variations in the VPS13A gene may lead to a dominant pattern of inheritance [emedicine.medscape.com]

[…] acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia [ncbi.nlm.nih.gov]

An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign. [pediatricneurologybriefs.com]

Some family members with no epilepsy but with milder features, such as tics and dysphagia for example, may be representative of heterozygous expression of the deletion, suggesting that variations in the VPS13A gene may lead to a dominant pattern of inheritance [emedicine.medscape.com]

blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. [ncbi.nlm.nih.gov]

An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign. [pediatricneurologybriefs.com]

blindness to loss of peripheral vision Occasionally results in blindness Other eye symptoms Slower vertical saccades (slow eye movements in a vertical pattern) Abnormal saccadic pursuits (jerky eye movements while following a moving object) Impaired [nbiacure.org]

[…] bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid [medical-dictionary.thefreedictionary.com]

Ocular abnormalities include limbal dermoids, strabismus. Otorhinolaryngological features include microtia, partial to complete atresia of external acoustic meatus, preauricular skin tags, deafness, macrosomia. [en.wikipedia.org]

balding, short trunk, variable musculoskeletal changes (e.g., kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary defects (e.g., cryptorchidism). [medical-dictionary.thefreedictionary.com]

kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary defects (e.g., cryptorchidism). [medical-dictionary.thefreedictionary.com]

dislocation 143095 CHST3 603799 7 Spondylometaphyseal dysplasia, Kozlowski typeSMDK 184252 TRPV4 605427 14 Spondyloperipheral dysplasiaSEMDSTWK 271700 COL2A1 120140 25 Stapes ankylosis with broad thumb and toes 184460 NOG 602991 7 Stickler syndrome, [diagenos.com]

Recommended reading: Healing Back Pain by Dr. John E. Sarno. He has written a number of books but that one remains my favorite. [cynthiakuni.wordpress.com]

I have severe neck and back pain and no one can find anything to do to help me. [steadyhealth.com]

About Me Conditions and Treatments back pain, joint pain, musculoskeletal pain, sciatica, neck pain, hip pain, knee injury, muscle strain, degenerative disc disease, spinal cord stimulation, fibromyalgia, injury of the lumbar spine, knee ligament tear [nyulangone.org]

About Me Conditions and Treatments back pain, joint pain, musculoskeletal pain, sciatica, neck pain, hip pain, knee injury, muscle strain, degenerative disc disease, spinal cord stimulation, fibromyalgia, injury of the lumbar spine, knee ligament tear [nyulangone.org]

Back pain, hip pain, and foot pain took turns ruling my life, except when they all popped up at once. Occasionally other body parts chimed in. [cynthiakuni.wordpress.com]

Back pain, hip pain, and foot pain took turns ruling my life, except when they all popped up at once. Occasionally other body parts chimed in. [cynthiakuni.wordpress.com]

[…] dystrophy syndrome, herniated disk, spinal compression fracture, spinal narrowing, thoracic outlet syndrome, carpal tunnel syndrome, rheumatoid arthritis, ankle sprain, central post-stroke pain, spine fracture, peripheral neuropathy, plantar fasciitis, foot [nyulangone.org]

The shifting cloud of diagnoses that hung over me included IT Band injury, Neuroma, Greater Trocanteric Bursitis, Shin splints, Metatarsalgia, Sacroiliac joint dysfunction, and Degenerative Disc Disease. [cynthiakuni.wordpress.com]

[…] bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid [medical-dictionary.thefreedictionary.com]

The actual VAHT session period yielded the greatest improvement in the subjects' heart rate entrainment compared to pre and post measures. 14 It is theorized that the powerful vibratory effects of VAHT interrupt impulse transmission among pain pathways [practicalpainmanagement.com]

[…] several doses each day In the intrathecal method, an implanted baclofen pump delivers medication directly into the spinal fluid Deep brain stimulation Used increasingly more often in NBIA and has some evidence for benefit A stimulator sends electrical impulses [nbiacure.org]

[…] pantothenate kinase–associated neurodegeneration (6 of 18 patients for whom information was available [33 percent]) and rare in patients with classic pantothenate kinase–associated neurodegeneration; these symptoms included personality changes with impulsivity [nejm.org]

TMS is not about being a happy person. It is not even about stress, though it certainly appears that way sometimes. TMS is about distraction. Curing TMS is about thinking the unthinkable. “Whoa. [cynthiakuni.wordpress.com]

I do not mean this post as a denial of the reader’s personal medical situation. Although I hope that someone will find guidance by reading my story, I do not believe my experience can be applied to everyone. [cynthiakuni.wordpress.com]

[…] hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria [ncbi.nlm.nih.gov]

An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign. [pediatricneurologybriefs.com]

In contrast, no patient with classic pantothenate kinase–associated neurodegeneration presented with a speech defect (although dysarthria developed later in 16 of these patients). [nejm.org]

[…] of symptoms is during the first two decades of life and mean survival is approximately 11 years; The clinical features may include progressive motor disorder characterized mainly by "extrapyramidal" signs, typically dystonia, choreoathetosis, tremor, dysarthria [path.upmc.edu]

Frustrate it and tantrums happen. Trump Derangement Syndrome is the tantrum that happens when that sense of entitlement bursts. It’s not a new phenomenon. We saw it with Bush and with previous Republican presidents before him. [frontpagemag.com]

Child Primitive is rolling on the ground in full tantrum mode: “I don’t want to go! I don’t want to have my worth/skills/strength (insert one) tested! I hate this job! I hate having no power!” [cynthiakuni.wordpress.com]

In several patients with atypical disease whose first major symptom was palilalia, psychiatric abnormalities were misinterpreted as the cause of the speech defect. [nejm.org]

cryptorchidism). Molecular pathology Bird-headed dwarfism is divided into four types based on the gene (or locus if the gene has yet to be identified) found defective. [medical-dictionary.thefreedictionary.com]

Phase-contrast microscopy of whole blood showed 80-90% acanthocytes, confirmed by electron microscopy. [pediatricneurologybriefs.com]

Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction. [ncbi.nlm.nih.gov]

Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN. [link.springer.com]

The main pathology in HSD is deposition of iron containing pigment in the substantia nigra and in the globus pallidus, with formation of axonal spheroids, neuronal loss and gliosis. [path.upmc.edu]

A cell loss of 90% in the striatum with astrocytic gliosis has been reported. In contrast to Huntington disease (HD), the major inherited choreiform disorder of adults, the cerebral cortex and corpus callosum are relatively spared. [emedicine.medscape.com]