scholarly journals Nutritional Support for Child with Werdnig–Hoffmann Spinal Muscular Atrophy

2021 ◽  
Vol 65 (6) ◽  
pp. 72-75
Author(s):  
E. A. Balakireva ◽  
A. V. Slepukhina ◽  
P. V. Serikov ◽  
O. A. Puchenkova ◽  
V. M. Mikhareva ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Nutritional Support ◽  
Muscular Atrophy ◽  
Laboratory Data ◽  
Type I ◽  
Skin Fold ◽  
Arm Circumference ◽  
Grade Ii ◽  
One Year ◽  
Werdnig Hoffmann

Some of the severe manifestations of Werdnig-Hoffmann disease are the pseudobulbar and bulbar syndromes complicated by the hypotrophy of the various degrees of severity. The clinical case of the nutritional support for the child with grade II hypotrophy that complicated the course of Werdnig–Hoffmann disease in one-year-old child is presented. The purpose of this study is to assess the effect of Clinutren Junior high-calorie formula for children from 1 to 10 years of age on the growth and development of the child diagnosed with type I spinal muscular atrophy. The results were analyzed according to the degree of change in the following anthropometric data: mid-arm circumference, mid-hip circumference, the size of the skin fold in the periumbilical region, as well as laboratory data, as follows: albumin, total protein, lymphocytes.

Morphological and morphometrical study of human muscle spindles in Werdnig-Hoffmann disease (infantile spinal muscular atrophy type I)

2006 ◽  
Vol 108 (4) ◽  
pp. 265-269 ◽  
Author(s):  
Evangelia Kararizou ◽  
Panajota Manta ◽  
Nikolaos Kalfakis ◽  
Konstantinos Gkiatas ◽  
Dimitrios Vassilopoulos
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Muscle Spindles ◽  
Human Muscle ◽  
Type I ◽  
Spinal Muscular Atrophy Type ◽  
Werdnig Hoffmann ◽  
Morphometrical Study

scholarly journals Autopsy of a child with Spinal muscular atrophy Type I (Werdnig Hoffmann disease)

2020 ◽  
Vol 10 (2) ◽  
Author(s):  
Manoj Gopal Madakshira ◽  
Sonal Singla ◽  
Kirti Gupta ◽  
Sayeeda Zahan ◽  
Pradip Paria ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type ◽  
Werdnig Hoffmann

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

scholarly journals Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

2021 ◽  
Vol 40 (4) ◽  
pp. 1578-1587
Author(s):  
Andrea Foppiani ◽  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Simone Ravella ◽  
Giorgio Bedogni ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Fat Mass ◽  
Muscular Atrophy ◽  
Type I ◽  
Internal Validation ◽  
Spinal Muscular Atrophy Type ◽  
Children Development

SMN mRNA and protein levels in peripheral blood

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1067-1073 ◽  
Author(s):  
C. J. Sumner ◽  
S. J. Kolb ◽  
G. G. Harmison ◽  
N. O. Jeffries ◽  
K. Schadt ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Disease Severity ◽  
Peripheral Blood ◽  
Muscular Atrophy ◽  
Gene Copy ◽  
Blood Levels ◽  
Type I ◽  
Protein Levels ◽  
Smn Protein

Background: Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy.Objective: To develop and validate measures of SMN mRNA and protein in peripheral blood and to establish baseline SMN levels in a cohort of controls, carriers, and patients of known genotype, which could be used to follow response to treatment.Methods: SMN1 and SMN2 gene copy numbers were determined in blood samples collected from 86 subjects. Quantitative reverse transcription PCR was used to measure blood levels of SMN mRNA with and without exon 7. A cell immunoassay was used to measure blood levels of SMN protein.Results: Blood levels of SMN mRNA and protein were measured with high reliability. There was little variation in SMN levels in individual subjects over a 5-week period. Levels of exon 7-containing SMN mRNA and SMN protein correlated with SMN1 and SMN2 gene copy number. With the exception of type I SMA, there was no correlation between SMN levels and disease severity.Conclusion: SMN mRNA and protein levels can be reliably measured in the peripheral blood and used during clinical trials in spinal muscular atrophy, but these levels do not necessarily predict disease severity.

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