hypotonia, with or without congenital heart diseases, poor feeding, genitourinary system abnormalities like paroxysmal nocturnal haemoglobinuria and prenatal Citation: Yang L, Peng J, Yin X-M, Pang N, Chen C, Wu T-H, Zou X-M and Yin F (2018) Homozygous PIGT Mutation Lead to Multiple Congenital Hypotonia in Infants. Hypotonia is reduced resistance to passive movement of joints. The differential diagnosis of hypotonia is organized anatomically into central and peripheral causes. Peripheral hypotonia is further divided into disorders of anterior horn cells, peripheral nerves Congenital hypothyroidism. 1. Dr.Shivani Bansal. 2. Thyroid gland ? Thyroid is an endocrine gland situated at the root of the neck on either side of the 10. Congenital Hypothyroidism- ? Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth ? most cases of A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures Congenital disorder of glycosylation with developmental anomaly. Multiple congenital anomalies-hypotonia-seizures syndrome. If hypotonia (decreased muscle tone) is suspected in a newborn baby or young child, they'll be referred to a specialist. This will usually be a paediatrician (a specialist in treating children) with expertise in disorders of the nerves and nervous system, or a neurologist (a specialist in disorders of the nerves Keywords: hypotonia, congenital hypotonia, muscle weakness, muscle tone, low tone, floppy muscles, bch, myopathy, nemaline. Description: The Benign Congenital Hypotonia Site - Information and support for people dealing with hypotonia. Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome 58. OMIM : 56 CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. General Discussion Benign congenital hypotonia (BCH) has been an outdated term since 1956, when the first congenital muscle disease, central core Symptoms and findings associated with the group of neuromuscular disorders formerly known as benign congenital hypotonia include low muscle tone Benign congenital hypotonia is a condition of abnormally low muscle tone, which is the amount of tension or resistance to movement in a muscle, and it often involves reduced muscle strength. It is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that Volume 44 Issue 4. Benign congenital hypotonia is Full text views reflects the number of PDF downloads, PDFs sent to Google Drive, Dropbox and Kindle and HTML full text views. Congenital Weakness: General. Hypotonia: Clinical assessment. Traction response. Maneuver. CNS disease is the most common cause of congenital hypotonia. Common features of presentation of Neuromuscular disorders in infants. Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1, aka Steinert disease), an autosomal dominant disorder caused by an unstable cytosine-thymine-guanine (CTG) trinucleotide repeat in the myotonic dystrophy protein kinase (DMPK) gene, chromosome Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1, aka Steinert disease), an autosomal dominant disorder caused by an unstable cytosine-thymine-guanine (CTG) trin