Publications by authors named "J Maria Eiris-Punal"
Article Synopsis
- Traditional outcome measures for spinal muscular atrophy (SMA) clinical trials are insufficient for capturing the complete severity of the disease, prompting a study to evaluate the psychometric properties of various questionnaires addressing patient and caregiver insights.
- Conducted as a multicenter, prospective, noninterventional study, it included 113 SMA patients aged 2 to 17 years and utilized a range of assessments, including existing scales and newly developed items to evaluate domains such as fatigue and vulnerability.
- The results demonstrated high reliability and construct validity for most measured domains, with perceived fatigability being notably affected and the SMA Independence Scale (SMAIS) showing sensitivity to changes, highlighting the need for improved assessment tools in SMA.
Introduction: Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies.
View Article and Find Full Text PDFIntroduction: The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion.
Aim: To report the case of a girl with a heterozygous de novo mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.
Introduction: Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance.
Case Report: An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen.