PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive cl...

Prader-Labhart-Willi or Prader-Willi syndrome (PWS) was first reported in 1956, and additional syndrome details have been elucidated since then. This syndrome is primarily characterized by severe neonatal hypotonia, dysmorphic changes, retarded physical and cognitive development, early hyperphagia, obesity, sleep disorders, psychiatric and behavioral disorders, growth deficit and hypogonadism. ...

BACKGROUND Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. CASE REPORT We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in...

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-defic...

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive...

Background: This study explored the application of Kinesio® Taping (KT®) method in conjunction with traditional occupational therapy (OT) intervention for a child hypotonia. Specifically, differences functional hand outcomes (manual dexterity and grasp pattern) were examined between sessions without KT® method. Methods: A 9-year 5-month-old male subject, at time enrollment, diagnosed hypotonia,...

Abstract Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. Case presentation The main purposes of the case report are to highlight benefit multidisciplinary rehab...

Case presentation: We conducted a descriptive study of 4 cases with GLUT1 Deficiency (Glut1D) diagnosed in our service the past 2 years. The diagnosis was established by: hypoglycorrhachia, clinical symptoms and SLC2A1 mutation. Our first patient, 4-year-old boy, presented developmental delay, hypotonia, myoclonic jerks drop attacks at 11 months age. MRI brain image showed bilateral hippocampal...