Results 21 to 30 of about 69 (68)
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 +1 more source
Porfiria aguda intermitente: valor do teste de Watson e Schwartz para o diagnóstico
É apresentado um caso de Porfiria aguda intermitente em uma jovem de 20 anos do sexo feminino. Os primeiros sintomas - cólicas abdominais periódicas - surgiram aos 15 anos de idade.
José Lamartine de Assis
doaj +1 more source
PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that displays a rapid evolution. Current treatments have failed to revert clinical symptoms because the mechanisms involved in the death of motoneuron are still unknown ...
Juliana Milani Scorisa +4 more
doaj +1 more source
Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients
Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (Kugelberg-Welander ...
C.A. Kim +7 more
doaj +1 more source
Therapeutic advances in 5q-linked spinal muscular atrophy
Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene.
Umbertina Conti Reed, Edmar Zanoteli
doaj +1 more source
A consecutive series of 21 patients with single limb atrophy (monomelic amyotrophy) is reported. Sixteen had lower limb atrophy and five had upper limb involvement. The median age of the onset was 20 years.
MARCOS R.G. DE FREITAS +1 more
doaj +1 more source
Neuromiopatia isquêmica em cinco cães (2008-2016)
RESUMO: O objetivo deste estudo foi apresentar dados epidemiológicos, clínicos e anatomopatológicos de cinco cães com neuromiopatia isquêmica secundária a trombose ou tromboembolismo aórtico.
Angel Ripplinger +6 more
doaj +1 more source
Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology. [PDF]
Gondim FAA +11 more
europepmc +1 more source
Mielomalácia hemorrágica progressiva em 14 cães Progressive hemorrhagic myelomalacia in 14 dogs
A mielomalácia hemorrágica progressiva (MHP) é uma afecção rara e fatal, em que ocorre necrose aguda isquêmica e progressiva do parênquima da medula espinhal, levando à liquefação da mesma.
Débora de M. Zilio +1 more
doaj
Objetivo: Visa demonstrar a associação da quimioterapia ao possível diagnóstico de Leucoencefalopatia Multifocal Progressiva (LEMP) em paciente vivendo com o HIV.
JGM Lusvarghi +8 more
doaj +1 more source

