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Unbound Medicine.
(Progressive bulbar palsy)
1,032 results
  • [GAO Wei-bin's clinical experience in treatment of medulla oblongata paralysis with nape acupuncture]. [Journal Article]
    Zhongguo Zhen Jiu. 2022 Nov 12; 42(11):1285-9.Zhu PY, Guan SY, … Gao WB
  • This paper introduces GAO Wei-bin's academic thought in treatment of medulla oblongata paralysis with acupuncture. Through analyzing the etiologies and locations of medulla oblongata paralysis, in accordance with "selecting the nearby acupoints of the affected area", the acupoints are selected from the nape region, the nape acupuncture therapy and the corresponding new points are developed. Based…
  • StatPearls: Electrodiagnostic Evaluation Of Motor Neuron Disease [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)RamroopHillaryHNassau University Medical CenterCruzRicardoRSouth Nassau Communities HospitalBOOK
  • Motor neuron disorders can be thought of as residing on a spectrum, whether upper motor neurons, lower motor neurons, or both are affected. Motor neuron diseases include amyotrophic lateral sclerosis (affects both upper and lower motor neurons), primary lateral sclerosis (affects upper motor neurons), progressive muscular atrophy (affects lower motor neurons ), progressive bulbar palsy (affects l…
  • Frequency and Longitudinal Course of Motor Signs In Genetic Frontotemporal Dementia. [Journal Article]
    Neurology. 2022 Aug 10 [Online ahead of print]Schönecker S, Martinez-Murcia FJ, … Genetic Frontotemporal Dementia Intiative (GENFI)
  • CONCLUSIONS: These results indicate the presence of multiple natural clusters of motor signs in genetic FTD, each correlated with specific atrophy patterns. Their motor severity depends on time and the affected gene. These clinico-genetic associations can guide diagnostic evaluations and the design of clinical trials for new disease-modifying and preventive treatments.
  • StatPearls: Motor Neuron Disease [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)AroraRahul D.RDKidwai Memorial Institute of Oncology, Bangalore, IndiaKhanYusuf S.YSVision (Alfarabi) College of Medicine, Riyadh, KSABOOK
  • Motor neuron disease (MND) is said to be a progressive neurological disorder that presents with both lower motor neurons (anterior horn cells that project from the brainstem and the spinal cord to the muscle) and upper motor neuron signs (neurons that project to the brainstem and spinal cord from higher cortical centers).[1] While the anterior horn cell and the corticospinal tract have been shown…
  • StatPearls: Werdnig Hoffmann Disease [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)EmmadyPrabhu D.PDUNC school of Medicine, Atrium HealthBodleJeffreyJAtrium HealthBOOK
  • Werdnig-Hoffmann disease is a type of spinal muscular atrophy (SMA), a rare form of motor neuron disease. It is the most common type of SMA and accounts for about 80% of individuals with this condition. There are 4 types of SMA. Werdnig-Hoffmann disease, also known as SMA1, is the most severe form. Infants with this condition experience severe muscle weakness with onset before 6 months of age and…
  • Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2. [Case Reports]
    J Clin Neuromuscul Dis. 2022 Jun 01; 23(4):205-209.Sanchez JA, Traub R, … Howard JF
  • We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro). Her testing demonstrates a non-length-dependent axonal sensorimotor polyn…
  • Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. [Case Reports]
    Am J Hematol. 2022 Nov; 97(11):1495-1496.Naami N, Borkhardt A, … Escherich G
  • We diagnosed a 13-month-old girl with severe neurological deficits and hyporegenerative macrocytic anemiawith Brown-Vialetto-Van Laere syndrome type 2 (BVVL 2), a rare disorder of the riboflavin transporter, caused by variants in the SLC52A2 gene. Bone marrow aspiration revealed hypoplastic erythropoiesis and vacuolization of myelocytes, proerythroblasts, and micromegakaryocytes. We suggest BVVL …
  • Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient. [Case Reports]
    J Int Adv Otol. 2022 Mar; 18(2):192-195.do Amaral MSA, Massuda ET, … Angelo Hyppolito M
  • The Brown-Vialetto-Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then. Hearing loss is the most common symptom of the syndrome, as most individuals have it through the development of the disease. …
  • [A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant]. [Case Reports]
    Rinsho Shinkeigaku. 2022 Mar 29; 62(3):205-210.Beppu S, Ikenaka K, … Mochizuki H
  • A 67-year-old man presented slowly progressive weakness of the extremities visited our hospital. Nerve conduction study showed axonal neuropathy and needle electromyography showed neurogenic changes with denervation findings in multiple limb muscles. While he was diagnosed as Probable amyotrophic lateral sclerosis (ALS), which is defined by the Awaji criteria for diagnosis of ALS, he did not deve…
  • [Oral hygiene in patients with motor neuron disease: a cross-sectional survey]. [Journal Article]
    Ned Tijdschr Tandheelkd. 2022 Feb; 129(2):73-80.Makizodila BAM, van de Wijdeven JHE, … Volgenant CMC
  • Neuromuscular disorders cause damage to the motor nerves. Arm-hand function can severely be impaired. The needs of and limitations of patients with neuromuscular disorders and the role of their carers in providing oral hygiene were studied. To this end, an online survey was sent to 706 patients with a neuromuscular disorder (amyotrophic lateral sclerosis, spinal muscular atrophy, primary lateral …
  • Rare Case of Central Pontine Myelinolysis: Etiological Dilemma. [Case Reports]
    Cureus. 2021 Nov; 13(11):e19644.Maturu MVS, Datla AV, … Dalai S
  • Central nervous system (CNS) involvement in Sjogren's syndrome (SS) has a broad spectrum of presentations. We present a 33-year-old with sudden onset, rapidly progressive quadriplegia, severe dysarthria, bilateral facial palsy, bulbar palsy, and hypernatremia. The MRI of the brain revealed hyperintensity in the central pons diffusion-weighted imaging, T2-weighted imaging, and fluid-attenuated inv…
  • Recent advances in riboflavin transporter RFVT and its genetic disease. [Review]
    Pharmacol Ther. 2022 05; 233:108023.Jin C, Yonezawa A
  • Riboflavin (vitamin B2) is essential for cellular growth and function. It is enzymatically converted to flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which participate in the metabolic oxidation-reduction reactions of carbohydrates, amino acids, and lipids. Human riboflavin transporters RFVT1, RFVT2, and RFVT3 have been identified and characterized since 2008. They are highly…
  • Isolated bulbar palsy and dysphagia in children with respiratory symptoms. [Case Reports]
    Dev Med Child Neurol. 2022 04; 64(4):518-522.Zimmels S, Balfour-Lynn IM, … Ismayilova N
  • Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11 males, four females) over a 6-year period, who were found to have an isolated bulbar palsy on genioglossus electromyography, with no accompanying neu…
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