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Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
Duchenne muscular dystrophyMGDenervation atrophyNemaline myopathyFacioscapulohumeral muscular dystrophyDisuse atrophyLimb-girdle dystrophyMitochondrial myopathyMyotonic dystrophy
Diaphragm Ultrasound in Patients with Neuromuscular Disorders
Published in Massimo Zambon, Ultrasound of the Diaphragm and the Respiratory Muscles, 2022
Facioscapulohumeral muscular dystrophy (FSHD1) is one of the most common hereditary muscular dystrophy characterized by facial and shoulder weakness, in relation to a contraction of the subtelomeric D4Z4 repeat on chromosome 4q35. clinical presentation may vary with an asymmetric muscle involvement and respiratory muscles may be involved (33). A shorter D4Z4 repeat has been reported to be associated with earlier disease onset (34). Respiratory involvement is frequent in FSHD1 patients in wheelchairs and patients with severe clinical disease and proximal lower limbs weakness (35,36). Ultrasound can be used for the evaluation of FSHD1 patients. Diaphragm inspiration motion and diaphragm thickening ratio are reduced in FSHD1 in comparison with healthy persons (37). MIP is significantly associated with diaphragm thickening ratio and with diaphragm inspiratory motion in FSHD1 (37). Ultrasound may reveal diaphragm asymmetric inspiratory pattern (38) (Figures 9.2a and 9.2b).
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
FSHD1 is an autosomal dominant disorder caused by a deletion of a variable number of tandem D4Z4 repeats located in chromosome 4. FSHD2 form is caused by mutations, in the SMCHD1 gene, the chromatin regulator, or in the DNMT3B gene.75,76 The median age of onset is 29–32 years, but it can begin in infancy or later in adulthood.77,78 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with the involvement of the face, scapula, upper arms, tibial and axial muscles. Extra muscular involvement may occur and include sensorineural hearing loss, and rarely, cognitive impairment or seizures. Vascular anomalies have been described and include microaneurysm, tortuosity of arterial retinal vessels, foveal hypoplasia, telangiectasias, vascular anomalies in the retinal periphery that mimics Coats disease, and electroretinogram alterations.79 Other ophthalmological findings are ptosis, lagophthalmos, and reduced intraocular pressure.80,81
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome
Published in Autoimmunity, 2019
Haochang Hu, Chujia Chen, Shanping Shi, Bin Li, Shiwei Duan
The human subtelomeric region adjacent to the telomere is mainly composed of repeat sequences. Although the subtelomeres in human sperm and oocytes are almost not methylated, these regions are de novo methylated by DNMT3B during early embryonic development [15]. An abnormal telomere phenotype occurs when DNMT3B is mutated, indicating that subtelomeric methylation plays a key role in human telomere maintenance [16]. A growing body of studies has shown that subtelomeric DNA methylation plays a key role in many diseases [17]. During the development of liver cancer, the telomere length is prolonged, accompanied by hypomethylation of chromosome 7q subtelomeres and hypermethylation of chromosome 21q subtelomeres [18]. Patients with facioscapulohumeral muscular dystrophy (FSHD) 1 lost the D4Z4 macrosatellite repeat unit with high methylation and epigenetic silencing in the subtelomere region of the long arm in chromosome 4q [19,20].
The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand
Published in Annals of Medicine, 2022
Kanchalika Sathianvichitr, Benjaporn Sigkaman, Niphon Chirapapaisan, Poramaet Laowanapiban, Tanyatuth Padungkiatsagul, Supanut Apinyawasisuk, Juthamat Witthayaweerasak, Wanicha Chuenkongkaew
This is the first epidemiological study of LHON patients in Thailand, and it provides data relating to Southeast Asia for the first time. The G11778A missense is the leading mutation in Thai LHON patients, followed by the T14484C mutation. Our review did not find any of the G3460A mutations in the study population. The vast majority of the Thai LHON patients were male and presented as young adults. There were only a few patients who had facioscapulohumeral muscular dystrophy with G11778A mutation. The G11778A mutation, an older age, and the male gender were related to poor vision recovery.