BACKGROUND Neuromuscular disorders are a clinically, pathologically, and genetically heterogeneous group. Even for the experienced clinician, an accurate diagnosis is often challenging due to the complexity of these disorders. Here, we investigated the utility of next generation sequencing (NGS) in early diagnostic algorithms to improve the diagnosis for patients currently lacking precise molec...

The core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermi...

Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...

Background: Mutations in the slow skeletal muscle troponin T ( TNNT1 ) gene cause a congenital nemaline myopathy resulting death from respiratory insufficiency early infancy. We report on four French Canadians with novel myopathy. Methods: Patients underwent lower extremity and paraspinal MRI, quadriceps biopsy genetic testing. expression was assessed by quantitative PCR immunoblotting. Wild ty...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA, presenting a wide range of clinical symptoms comprising headaches, seizures, aphasia, hearing loss, visual defects, and hemiparesis. Herein we report a case of a previously asymptomatic 40-year-old male who presented with recurrent headache, seiz...

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main source(s): Ministry Science and Technology, Excutive Yuan, Taiwan Background Tricuspid regurgitation (TR) is traditionally classified as primary or secondary TR. The effects TR on right ventricular (RV) function were not consistent. We hypothesized that a unique group, sophisticated sub-group...

We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, Möbius sequence, developmental delay, myopathy, hydronephrosis, and bilateral clubfeet. These features are consistent with Carey-Fineman-Ziter (CFZ) syndrome (MIM 254940), which has been previously reported in six children (including two sibling pairs). Cranial magnetic resonance imaging (MRI) reve...

Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects of this syndrome. Here we report one such case, which may provide valuable information to specialists in oral hea...

Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sis...