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Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Other myotonic syndromes are rare in comparison with myotonic dystrophy, which must be carefully excluded (Table 13.5). Myotonia congenita (Thomsen disease) is heterogeneous and at least half the cases are recessively inherited, despite the prominence of some large dominantly inherited families. The two types show clinical as well as genetic differences. Because new mutations for this benign condition are likely to be rare, it is wise to give a one in four risk for further children born to healthy parents of an isolated case, until a molecular diagnosis has been achieved. Correspondingly, the risk of such an isolated case transmitting the condition is, in the absence of a molecular diagnosis, small. Careful neurophysiological tests by an expert are important in distinguishing the different disorders in this group.
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Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Thomsen Disease (Syn: myotonia congenita) Inability to relax the muscles after contraction, occurring during early childhood. Described by Ernest von Leyden (1832–1910) in 1876. Asmus Julius Thomas Thomsen (1815–1896), Danish physician who himself had the disease, gave a description in 1876 of 23 patients of whom 20 were from his family. A genealogical survey through seven generations of his family was published by Nissen in 1923.
Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita
Published in Neurological Research, 2019
Zhang Wei, Meng Huaxing, Wang Xiaomei, Wang Juan, Chang Xueli, Zhang Jing, Guo Junhong
Myotonia congenita (MC) is a genetic muscular disease characterized by impaired muscle relaxation after voluntary contraction (myotonia) [1,2]. It is caused by reduced sarcolemmal chloride conductance duo to mutations in the CLCN1 gene coding for the skeletal muscle voltage-gated chloride channel CLC-1 [3,4]. MC may be inherited as either an autosomal dominant (Thomsen disease, OMIM#160,800) or recessive trait (Becker disease, OMIM#255,700), and Becker disease exhibits a generally more severe phenotype[5]. Affected patients complain of muscle stiffness, which appears upon initiating movement following a period of rest and improves with several repetitions of the same movement (warm-up phenomenon) [2,5]. Rapid voluntary movement or mechanical stimulation can also provoke muscle stiffness. Muscular hypertrophy, a finding referred to as an athletic phenotype, is another common sign of MC[2]. Muscle atrophy and transient weakness can be observed in some patients [2,5].
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
Hereditary myopathies are a heterogeneous group of muscular disorders, some of which are associated with extraocular muscle dysfunction. Ptosis and ophthalmoplegia may be the presenting signs of mitochondrial myopathies and oculopharyngeal muscular dystrophy. It is important to recognize these early manifestations to prevent more serious and potentially life-threatening complications (that may appear in some of these patients). This article aims to review relevant published literature on ophthalmological manifestations associated with hereditary myopathies, focusing on specific clinical and genetic aspects that could help specialists recognize muscular disorders in patients presenting with these ophthalmological features. The literature was searched using PubMed and Medline, and articles were obtained from bibliographies of relevant publications (2000–2020), in English, Spanish, and French. We included references that presented cases of ophthalmological manifestations of myopathies. The search terms used were ophthalmological, centronuclear and myotubular myopathy, nemaline myopathy, myosin storage myopathy, core myopathies, congenital fiber-type disproportion, mitochondrial myopathies, chronic progressive external ophthalmoplegia, Kearn–Sayre syndrome, mitochondrial myopathy and encephalopathy, lactate acidosis, stroke-like episodes, myotonic dystrophy, paramyotonia congenita, Schwartz-Jampel syndrome, Thomsen disease, Duchenne and Becker muscular dystrophy, muscular dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, oculopharyngodistal myopathy, Walker–Walburg syndrome, Fukuyama congenital muscular dystrophy, muscle-eye-brain disease, and hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome.
The concepts of heredity and degeneration in the work of Jean-Martin Charcot
Published in Journal of the History of the Neurosciences, 2020
On Tuesday, 17 July 1888, Charcot lectured on chronic Huntington’s disease: Thus Huntington’s chorea is like many other nervous system and muscular conditions newly introduced in the nosography, for example: Thomsen disease, Friedreich’s ataxia, and pseudo-hypertrophic paralysis described for the first time by Duchenne de Boulogne [see Figure 8]. All these conditions, as you know, are both similar hereditary diseases and family diseases, while manifesting the heredity of transformation in various ways.