Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy [PDF]
Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia.
Dae-Won Gwak +7 more
doaj +2 more sources
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy) com seguimento eletrofisiológico de longo prazo: relato de caso [PDF]
X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene.
João Aris Kouyoumdjian +2 more
doaj +2 more sources
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon [PDF]
The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle.
Camila Nascimento Alves +5 more
doaj +2 more sources
ABSTRACT X‐linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial ...
Anya Rothenbuhler +7 more
wiley +1 more source
Dendritic spines receive the majority of excitatory connections in the central nervous system, and, thus, they are key structures in the regulation of neural activity. Hence, the cellular and molecular mechanisms underlying their generation and plasticity, both during development and in adulthood, are a matter of fundamental and practical interest ...
Pablo García-López +3 more
wiley +1 more source
ABSTRACT Objective To systematically review the values and preferences of people with lived experience of motor neurone disease (MND), including those living with MND, caregivers and genetic carriers, regarding their health‐related outcomes. Introduction MND is a devastating neurodegenerative disease that significantly impacts those living with the ...
Timothy Hugh Barker +12 more
wiley +1 more source
Improving the Quality of Life of a Patient with Kennedy’s Disease Using Acupuncture: A Case Report
Kennedy’s disease is a rare X-linked neuromuscular disorder with no curative treatment. Although acupuncture has been suggested as a supportive therapy, evidence supporting its effectiveness remains limited. This single-case study is aimed to assess a
Sohae Cho, Eun-Heui Jo, SeungWon Paik
doaj +1 more source
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA). [PDF]
Blasi L +11 more
europepmc +1 more source
Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada. [PDF]
Wilton-Clark H +4 more
europepmc +1 more source
Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report. [PDF]
Ji G +8 more
europepmc +1 more source

