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Paediatric Tracheostomy and Paediatric Airway Management
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Indications for long-term ventilation include: Congenital central hypoventilation syndromeSpinal injuryCongenital myopathyAirway malaciaChronic lung disease
Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Clinical features: This disease causes disorganization of the proteins found in sarcomeres in skeletal muscles and is the most common congenital myopathy. There are different types based on the degree of severity. Proximal muscle weakness is the most common and may worsen over time.
Acute-onset adult esotropia: Bielschowsky type
Published in Jan-Tjeerd de Faber, 28th European Strabismological Association Meeting, 2020
Results: The study was negative for neurologic disorders, Myastenia Gravis/Eaton-Lambert and congenital myopathy. Chemodenervation (BOTOX ®)was performed without success. The intermittent esotropia and diplopia remain two years later but she does not complain and refuse surgery.
Improving genetic diagnostics of skeletal muscle channelopathies
Published in Expert Review of Molecular Diagnostics, 2020
Vinojini Vivekanandam, Roope Männikkö, Emma Matthews, Michael G. Hanna
Mutations in RYR1, ATP1A2, MT-ATP6, and MT-ATP8 have been recently identified in cases of periodic paralysis. Skeletal muscle ryanodine receptor (RYR1) codes for the main sarcoplasmic reticulum-located calcium release channel in muscle and is critical for excitation contraction coupling. RYR1 mutations are known to cause several muscle phenotypes including congenital myopathies, rhabdomyolysis, myalgia, and malignant hyperthermia [77]. A periodic paralysis phenotype caused by RYR1 mutations has been reported in four cases to date [44,78]. Two patients had childhood onset with congenital myopathy and later episodes of periodic paralysis. The other two did not have myopathy but demonstrated later-onset periodic paralysis. Cramps and myalgia were experienced by all patients and typical periodic paralysis triggers such as cold and exercise were described in some.
Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization
Published in Ultrastructural Pathology, 2018
Aanchal Kakkar, Mehar C. Sharma, Aruna Nambirajan, Sheffali Gulati, Rohit Bhatia, Vaishali Suri, Chitra Sarkar
IOPD patients (Table 1) ranged in age from 15 days to 9 months (median: 6 months; mean: 13.5 months). Majority of the patients in this group presented with generalized hypotonia/floppiness (5/7; 71.4%). Hypertrophic cardiomyopathy was present in four infants (57.1%), while hepatomegaly and tongue involvement were present in two patients each (28.6%). Clinical diagnoses entertained included mitochondrial myopathy in two cases, congenital myopathy in two cases, and spinal muscular atrophy (SMA) in one case. PD was suspected in four cases, three of whom presented with cardiomyopathy.
Infantile and Early Acquired Ophthalmoplegic Syndromes
Published in Journal of Binocular Vision and Ocular Motility, 2018
In congenital myopathy, the muscles and tendons may appear normal on a gross structural level, and innervation may be normal as well, but biopsy shows myopathy. While some congenital myopathies, especially the most severe forms, have a static presentation with complete loss of motility, most have progressive symptomatology9 and are therefore discussed with the other progressive forms of ophthalmoplegia below.