Some infants may experience respiratory and feeding difficulties shortly after birth (neonatal period). Feeding difficulties may result in affected children failing to gain weight and grow at the expected rate (failure to thrive). [rarediseases.org]

MDC1A is characterized by congenital muscle hypotonia, delayed or arrested motor milestones and feeding difficulties. [spandidos-publications.com]

These complications include feeding difficulties leading to poor nutrition; respiratory insufficiency; joint contractures and scoliosis; and, in some subtypes, cardiac involvement. [ncbi.nlm.nih.gov]

The patients show feeding difficulties with failure in sucking and swallowing, facial weakness, and feeble cry. [ijponline.biomedcentral.com]

Difficulties, and Delayed Brain Myelination 1 Neurodevelopmental Disorder with Involuntary Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 1 Neuroferritinopathy 1 Neurofibromatosis, Familial Spinal 2 Neurofibromatosis [preventiongenetics.com]

Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing. [sema4.com]

Most individuals are able to walk independently although because of progressive spinal rigidity and scoliosis they may experience difficulties walking later during life. [rarediseases.org]

Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R. Webster, Anthony T. [doi.org]

Other clinical features include a normal MRI; a normal IQ (in most cases); hypertrophy of the calves and quadriceps; a myopathic EMG; and macroglossia. Some individuals have dilated cardiomyopathy or impaired left ventricular function. [egl-eurofins.com]

The oldest child in the six individuals was the most severely affected with severe facial weakness, progressive weakness and macroglossia. She underwent surgery for scoliosis and had severe restrictive respiratory insufficiency. [cags.org.ae]

Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of the muscles of the arms, and contractures, especially of the Achilles tendon, [rarediseases.org]

Additional features include moderate hepatomegaly and macroglossia. [ncbi.nlm.nih.gov]

Alejandra Serrano León, Mandana Amir Shaghaghi, Natalia Yurkova, Charles N Bernstein, Hani El-Gabalawy and Peter Eck, Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort, The American Journal of [doi.org]

LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common. [patient.info]

Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. [abcam.com]

Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing. [sema4.com]

The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late stage of dystroglycanopathies. [ncbi.nlm.nih.gov]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

These findings suggested that the DAG1 protein is abnormally glycosylated in MDC1C and is central to the pathogenesis of the disorder. [link.springer.com]

A few affected individuals have had mental retardation, suggesting a syndromic form of the condition. Serum creatine kinase (CK) concentration in individuals with LGMD2I and MDC1C is usually markedly increased. [egl-eurofins.com]

This volume deals with brain development malformations of the central nervous system, showcasing a unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging [books.google.de]

[…] thin filament/actin thick filament/myosin elastic filament/titin nebulin Tropomyosin Troponin T C I Connective tissue Epimysium Fascicle Perimysium Endomysium Connective tissue in skeletal muscle General Neuromuscular junction Motor unit Muscle spindle Excitation–contraction [en.wikipedia.org]

MDA-supported scientists are pursuing several exciting strategies in muscular dystrophy research that have implications for LGMD. These strategies include gene therapy, exon skipping, stop codon read through and myostatin blocking. [mda.org]

Muntoni F, Voit T (2004) The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 14: 635–649. View Article Google Scholar 4. Reed UC (2009) Congenital muscular dystrophy. [journals.plos.org]

The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord. 2004; 14 :635–49. [ PubMed : 15351421 ] Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. [ncbi.nlm.nih.gov]