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...

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various pheno...

BACKGROUND De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS Diagnostic or research-based exome or Sanger seque...

MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL, Queen Square, London. Paediatric Neurology, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Paris Centre de Référence des Canalopathies Musculaires, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris UMR 546, Université Pierre et Marie Curie and INSERM, Paris Biochemistry and Genetics, Hôpit...

BACKGROUND De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. METHODS The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed develo...

The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to recognition of newer diagnostic entities (several c...

Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial ...

Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression disease with global developmental delay, early hypotonia, movement disorders such as oculogyric c...