Multifocal motor neuropathy. A clinical case and literature review by O. Laucius, V. Danielius, T. Vanagas, P. Valiukevičius

“…To prove the progressive course of the disease, the patient must be under long-term medical supervision, since the deteriorating state of the patient may imitate other diseases affecting the motor neuron, such as amyotrophic lateral sclerosis, chronic inflammatory demyelinating polyneuropathy, spinal muscular atrophy, and other. We present the clinical case of a 71-year-old patient who presented to the Neurology Department of the Hospital of Lithuanian University of Health Sciences Kauno Klinikos. …”
Get full text

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

“…MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. …”
Get full text

Pain in Neurodegenerative Disease: Current Knowledge and Future Perspectives by Marina de Tommaso, Lars Arendt-Nielsen, Ruth Defrin, Miriam Kunz, Gisele Pickering, Massimiliano Valeriani

“…The management of neurodegenerative diseases such as Alzheimer’s disease (AD) and other dementias, Parkinson’s disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington’s disease (HD), spinocerebellar ataxia (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding. …”
Get full text

PYROSEQUENCING: ITS POTENTIAL AND LIMITATIONS IN DIAGNOSIS OF INHERITED DISEASES IN CATTLE by Н. A. Kirsanova, A. V. Sukhoedova, M. A. Pleskacheva, I. V. Soltynskaya, I. A. Timofeeva, О. V. Prasolova, E. V. Krylova

“…Such mutations are associated with leukocyte adhesion defi ciency, complex vertebral malformation, uridine monophosphate synthetase defi ciency, citrullinemia, spinal muscular atrophy, spinal cord demyelination, Brown Swiss haplotype 2, Weaver syndrome, developmental duplications, α-mannosidosis, dwarfi sm, bovine male subfertility, trombocytopathya, arachnomelia syndrome, hypozincemia-like syndrome. …”
Get full text

Pediatric Sleep Quality and Parental Stress in Neuromuscular Disorders: Descriptive Analytical Study by Sajjad Khaksar, Mehdi Jafari-Oori, Forogh Sarhangi, Malihe Sadat Moayed

“…These conditions significantly affect patients’ quality of life and impose a substantial burden on caregivers. Spinal muscular atrophy (SMA) is a relatively common NMD in children that presents in various types with varying degrees of severity. …”
Get full text

The lived experience of migrant Syrian mothers’ interaction with the neonatal screening program by Mehmet Akif Sezerol, Zeynep Meva Altaş, Emrullah Arslan

“…A few participants had heard of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and spinal muscular atrophy (SMA), but they were not aware of the symptoms and effects of these diseases. …”
Get full text

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry by Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans

“…Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. …”
Get full text