Motor Neuron Diseases

The motor neuron disorders are a clinically diverse group of diseases that share a pathologic loss of the motor neurons. The most common adult-onset disorder is amyotrophic lateral sclerosis (ALS). Other forms include the spinal muscular atrophies, infectious motor neuronopathies, and rare focal forms of anterior horn cell loss.Overall, the incidence rate of ALS is believed to be 1.5 to 2.0 cases per 100,000 person-years, and the prevalence rate is 4 to 6 cases per 100,000 population. Other than in sparsely populated geographic clusters (eg, Guam and the Kii Peninsula of Japan), the incidence rate seems consistent across ethnic and geographic boundaries.

A Review Article: Categorization, Advancement and Obstacles of Genetic factors and types of Spinal Muscular Degeneration

SMA (Spinal muscular atrophies) are category of hereditary inflammation in the funiculars and lower brain stem, tissue fatigue, and degeneration characterized by motor neuron failure. The analytic and genetic phenotypes incorporate a diverse continuum distinguished depending on age of onset, tissue participation arrangement, and inheritance arrangement. Rapid advancements in genetic science have expedite the discovery of causative genes over the past few years, and provide significant access in awareness the biochemical and neurological basis of Spinal muscular atrophies and insights into the motor neurons' selective deficiency. Popular path physiological topics include Ribonucleic Acid metabolism and splicing abnormalities, axonal transmission, and motor neurons' advancement and communication. These also collectively revealed possible innovative prevention methods and comprehensive attempts are what benefits does the company offer? Although a range of promising therapeutic therapies for Spinal muscular atrophies is emerging, it is essential to identify therapeutic windows and establish responsive and appropriate biomarkers to promote future analytic trial success. This research offers a description of Spinal muscular atrophies' logical manifestations and genetics. It discusses recent advancements in learning—mechanisms for the pathogenesis of inflammation and new treatment methods.

L.O. Badalyan and current progress in the study of hereditary neuromuscular diseases

Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performed by academician L.O. Badalyan and his followers laid the background for solving many issues, regarding the diagnosis and treatment of these severe, progressive diseases. In many ways, academician L.O. Badalyan and his followers have anticipated the current understanding of pathogenic mechanisms of HNMD, which later were disclosed by means of modern molecular-genetic technologies. HNMD include progressive muscular dystrophies (PMD), spinal muscular atrophies (SMA), hereditary motor and sensory neuropathies, myopathic syndromes. The most prevalent progressive HNMDs are represented by dystrophinopathies (Duchenne PMD and Becker PMD) and limb girdle HNMD. The authors discuss experience and achievements in the studies of HNMDs and PMDs, conducted by academician L.O. Badalyan and his followers, as necessary prerequisites for the creation of modern approaches to genetic diagnostics of the diseases and forming their genetic registries, development of methods of etiopathogenetic therapy. Thanks to the accumulated experience and research there were discovered genes, which determine the HNMD development, pathogenic mechanisms of diseases with heterogenic clinical manifestations were studied. The data were accumulated for the formation of patients registries, determining groups for which a particular drug is being developed. The progress in genetic research has made it possible to identify more than 30 forms of limb-girdle PMD. A newly published classification of limb-girdle PMD is given, illustrating their genetic heterogeneity, the type of inheritance, the genetic locus of the mutation and defective protein are now taken into account. The article lists promising current global trends in the development of approaches to pathogenetic therapy of dystrophinopathies and limb-girdle PMD.

Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal “Muscle-Bone Unit” Analysis

To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies (BeMD) and 7 spinal muscular atrophies (SMA). Yearly osteodensitometries assessed body composition and bone mineral density (BMD) associated with bone markers and leptin. Along the 7-year study, 107 osteodensitometries showed that bone status evolved to osteopenia in most patients except BeMD. When analyzing the crude values, BMD improved with age in BeMD and SMA but not in DMD/LGMD. The correlation using the Z-scores displayed a decrease in BMD with age in DMD/LGMD for all regions, in SMA at total body less head, whereas BMD increased in BeMD at lumbar spine. As observed in healthy persons, muscular mass and bone tissue were significantly correlated. Glucocorticoids were deleterious on trabecular and cortical bone. Leptin was high in most patients and correlated to fat mass and bone parameters. This study confirms a secondary bone defect in neuromuscular diseases, further confirming the functional relationship between bone and muscle and arguing for regular bone follow-up in patients to prevent fracture risk. Adipose tissue seems to interfere with bone remodeling in neuromuscular diseases.

SÍNDROME DE WERDNIG-HOFFMAN: ASPECTOS PATOLÓGICOS E OS SABERES DA ENFERMAGEM

Objetivou-se descrever a Síndrome de Werdnig-Hoffmann, suas características funcionais, e o conhecimento dos profissionais de enfermagem diante do paciente portador de SWH. Trata-se de um estudo descritivo de revisão bibliográfica, produzida entre os anos de 2005 a 2016. Os dados foram coletados em revistas e periódicos disponíveis na internet, através de busca em base de dados indexadas na BVS: LILACS, SCIELO e ARCA (Repositório Institucional da FioCruz). A pesquisa revelou clinicamente que as Atrofias Musculares Espinhais (AME) compreendem quatro patologias classificadas de acordo com a idade de aparecimento dos sintomas e o grau do comprometimento motor. O tipo 1, denominado AME Infantil ou Síndrome de Werdnig-Hoffmann, objeto deste estudo, apresenta-se como forma mais grave da doença, manifesta-se precocemente entre o período pré-natal e os seis meses de vida ou imediatamente após o nascimento e caracteriza-se por grave comprometimento motor e respiratório. O estudo concluiu que a enfermagem tem papel relevante na abordagem do paciente portados de SWH, seja hospitalizado ou prestando cuidados e orientações em domicilio.Descritores: Enfermagem, Síndrome de Werdnig-Hoffmann, Atrofia Muscular Espinhal. Werdnig-Hoffman syndrome: patological aspects and nursing knowledgeAbstract: The objective of this study was to describe Werdnig-Hoffmann's syndrome, its functional characteristics, and the nursing professionals' knowledge regarding the patient with SWH. This is a descriptive study of bibliographic review, produced between 2005 and 2016. Data were collected in journals and periodicals available on the Internet, through a search in a database indexed in the VHL: LILACS, SCIELO and ARCA (Repository Institutional of FioCruz). The research clinically revealed that Spinal Muscular Atrophies (AME) comprise four pathologies classified according to the age of onset of symptoms and the degree of motor impairment. Type 1, referred to as AME, or Werdnig-Hoffmann syndrome, is the most severe form of the disease. It manifests itself early between the prenatal period and six months of life or immediately after birth. Is characterized by severe motor and respiratory impairment. The study concluded that nursing plays a relevant role in the approach of the patient carried SWH, whether hospitalized or providing care and guidance at home.Descriptors: Nursing, Werdnig-Hoffmann syndrome, Spinal Muscular Atrophy. Síndrome Werdnig-Hoffman: patológica y conocimiento de la enfermeríaResumen: Este estudio tuvo como objetivo describir el síndrome de Werdnig-Hoffmann, sus características funcionales, y el conocimiento de las enfermeras delante del paciente portador de SWH. Se trata de un estudio descriptivo de revisión de la literatura, producida entre los años 2005 a 2016. Los datos fueron recogidos en revistas y periódicos disponibles en Internet mediante la busca en la base de datos indexadas en la BVS: LILACS, SCIELO y ARCA (Repositorio la FioCruz institucional). La investigación reveló que clínicamente atrofias musculares espinales (AME) comprenden cuatro patologías clasificadas de acuerdo con la edad de aparición y grado de deterioro motor. Tipo 1, llamada AME infantil. La síndrome de Werdnig-Hoffmann, objeto de este estudio, se presenta como una forma más grave de la enfermedad se manifiesta antes, entre el período de gestación y después de los 6 meses de vida o inmediatamente después del nacimiento y se caracteriza por grave comprometimiento motor y severa comprometimiento respiratorio. El estudio concluí que la enfermería desempeña un papel importante en el portador de SWH y el paciente, ya sea hospitalizado en la prestación de atención y orientación, y en el hogar.Descriptores: Enfermería, Síndrome de Werdnig-Hoffmann, Atrofia Muscular Espinal.

Spinal Muscular Atrophy

Spinal muscular atrophies affect the lower motor neuron. The most common SMA maps to 5q is an autosomal recessive disorder. SMA is caused by loss or mutation of the SMN1 gene and retention of the SMN2 gene, and these genes lie in a complex area of the genome. Mild missense alleles of SMN1 work to complement SMN2 to give function and therapeutics that restore SMN levels are in clinical testing. Modifiers that lie outside the SMN gene locus and influence severity clearly exist, but what they are remains unknown as do the critical genes affected by SMN deficiency.

A Rare Case Report on Distal Spinal Muscular Atrophy (SMA)

Spinal muscular atrophies (SMA) are heterogeneous group of motor system disorders of alpha motor neuron clinically characterized by progressive lower motor neuron features. The distal form of SMA is an extremely rare disorder, which usually presents in the young adults and has a relatively slow progression with almost normal life-span. Differential diagnosis of this syndrome includes hereditary motor sensory neuropathy- Charcot-Marie-Tooth disease (CMT) and distal myopathies, which should be excluded before confirming this rare entity. As distal form of SMA is a very extremely rare condition so we would like to present a young male with this disorder and a short discussion of the theoretical aspects. Bangladesh Journal of Neuroscience 2016; Vol. 32 (2): 106-110