A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L‐2 Hydroxyglutaric Aciduria
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12967
Abstract: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder that is characterized by cerebellar ataxia, intellectual decline, leukoencephalopathy, and elevation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The diagnosis is based on… read more here.
Keywords: chronic progressive; case; pancerebellar syndrome; progressive pancerebellar ... See more keywords
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8409-z
Abstract: The sporadic occurrence of a mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), Kearns–Sayre syndrome (KSS, MIM 530000), and in infancy, Pearson syndrome (MIM 557000) may suggest the presence of a single, sporadic mitochondrial DNA… read more here.
Keywords: chronic progressive; ophthalmoplegia; dna; mtdna ... See more keywords
Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea
Sign Up to like & getrecommendations! Published in 2021 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2021.101407
Abstract: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity.… read more here.
Keywords: birt hogg; chronic progressive; hogg dub; progressive dyspnea ... See more keywords
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia
Sign Up to like & getrecommendations! Published in 2018 at "Orbit"
DOI: 10.1080/01676830.2017.1423346
Abstract: ABSTRACT Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the… read more here.
Keywords: chronic progressive; progressive external; intracranial hypotension; ophthalmoplegia ... See more keywords
Advance care planning in progressive neurological diseases: lessons from ALS
Sign Up to like & getrecommendations! Published in 2019 at "BMC Palliative Care"
DOI: 10.1186/s12904-019-0433-6
Abstract: BackgroundThere is increasing awareness of the need for an integrated palliative care approach in chronic progressive neurological diseases. Advance care planning (ACP) is an integral part of this approach. As a systematically organized and ongoing… read more here.
Keywords: chronic progressive; care planning; neurological diseases; progressive neurological ... See more keywords
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-230017
Abstract: Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2… read more here.
Keywords: chronic progressive; progressive external; cpeo; external ophthalmoplegia ... See more keywords
The Role of Palliative Care in Chronic Progressive Neurological Diseases—A Survey Amongst Neurologists in the Netherlands
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.01157
Abstract: Background: Chronic progressive neurological diseases like high grade glioma (HGG), Parkinson's disease (PD), and multiple sclerosis (MS) are incurable, and associated with increasing disability including cognitive impairment, and reduced life expectancy. Patients with these diseases… read more here.
Keywords: neurology; chronic progressive; discussions treatment; care ... See more keywords