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Genetic Counseling
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Zoltán Papp, Valéria Váradi, Júlia Hajdú
Disease, whether genetic or nongenetic, may be due to a variety of factors. Genetic disease is particularly likely to be heterogeneous in this respect. For example, a muscular dystrophy may result from a number of mutant genes. Among the common types of muscular dystrophy, we have the facioscapulohumeral form, which is characteristically auto-somal dominant, and myotonic dystrophy, also autosomal dominant. “Limb-girdle” muscular dystrophy, a diagnosis that probably comprises a number of disorders, is autosomal recessive. Duchenne, Becker, and Emery–Dreifuss muscular dystrophies are all X-linked recessive, with fairly distinct, but overlapping, phenotypes; under some conditions, they can manifest, usually in mild degree, in females also (e.g., symptomatic carriers). Sometimes investigation of a family with “muscular dystrophy” reveals that the primary disease was not in the muscles at all but, for example, a spinal muscular atrophy, originating in the anterior horn cells, or a more generalized disorder, for example, a glycogenosis (42).
Classification of Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Our approach is to classify myopathy into congenital and acquired forms. The congenital form is usually associated with hereditary or sporadic gene mutations. The acquired form is either due to systemic diseases or could be acquired through sporadic cause. Myopathic dystrophies are categorized under hereditary form as their abnormal genes usually run in the family, such as Duchenne muscular dystrophy (DMD) and Limb-girdle muscular dystrophy (LGMD). Other variants of hereditary or sporadic myopathies may be associated with either specific structural abnormalities or presented with unique histopathological feature. For example, myotubular myopathy (MTM) is characterized by the presence of central large nuclei in every muscle fiber. This disease is hereditary and associated with progressive muscle symptoms.
Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The protein product of the DMD locus, dystrophin, was entirely unknown before isolation of the gene. It is largely muscle-specific, but with smaller alternative forms present in the cerebellum and elsewhere in the brain. It is usually absent in typical cases of DMD, in contrast to the allelic disorder Becker muscular dystrophy (BMD, see later in this chapter), where it is present but altered in structure and/or reduced in quantity, and other dystrophies where it is generally normal. If a young boy presents with typical features of DMD and has a grossly raised serum creatine kinase (CK), molecular testing of leucocyte DNA will often be sufficient to establish the diagnosis, thereby completely avoiding the need for a muscle biopsy. However, immunocytochemical assays on muscle biopsy sections can contribute to the investigation of a limb girdle muscular dystrophy if DMD or BMD cannot be confirmed rapidly by molecular genetic testing. This requires properly stored frozen muscle.
Limb girdle muscle dystrophy and caesarian delivery: Anesthetic management and brief review of literature
Published in Egyptian Journal of Anaesthesia, 2018
Sumit Soni, Amarjyoti Hazarika, Balbir Kumar
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of shoulders, upperarms, pelvic area, and thighs. It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. The prevalence ranges from 1:14,500 to 1:123,000 inhabitants [1]. Some factors such as severity, age at onset, and features of LGMD are varied among patients. During pregnancy symptoms get exacerbated with increased respiratory compromise [2]. Here we present a case of anesthetic management of a woman with autosomal recessive LGMD undergoing elective caesarean section.
Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs: disease features, comorbidities and complications of disability*
Published in Disability and Rehabilitation, 2018
Andrew Oliver Frank, Lorraine H. De Souza
Muscular dystrophy, including myotonic dystrophy, is a term covering a set of chronic, hereditary, and progressive diseases involving degeneration of muscle cells and leading to successive wasting of the muscles including the respiratory muscles [1]. Limb girdle muscular dystrophy is now recognized as a heterogeneous group of myopathies that vary in severity and may affect persons of all ages from childhood through adulthood [2]. Life expectancy has improved markedly in recent years and Duchenne muscular dystrophy is now considered a disease of adulthood [3].
Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study
Published in Disability and Rehabilitation, 2019
Anna Carin Aho, Sally Hultsjö, Katarina Hjelm
The health/illness transition involves changes, such as moving from feeling healthy to chronic illness or from chronicity to a new sense of well-being that encompasses the chronicity [1]. People living with limb-girdle muscular dystrophy (LGMD2), which involves progressive muscular weakness predominantly in the shoulder and pelvic girdle [2], may also have to face the transition from being as independent a person as same aged peers to becoming in need of assistive devices and human aid to manage daily life. At present, there is no cure available for LGMD2 and the focus in healthcare must be to support the person to optimize health and well-being. The salutogenic theory introduced by Antonovsky [3] focuses on what causes a person’s movements towards health and how people manage to stay well despite difficulties. Central in this theory is how a person comprehends, manages, and finds meaning in everyday life, i.e., the person’s sense of coherence. In previous interview studies, based on the salutogenic theory, experiences of living with LGMD2 from the affected young adults’ [4] and their parents’ [5] perspectives have been described as well as health perceptions of the young adults [6]. Variation was found in the young adults’ need of human aid and assistive devices to manage daily life. This article focuses on how the transition from receiving the diagnosis LGMD2 to becoming in need of human support to manage daily life and using a wheelchair for ambulation is perceived by the affected young adults and their parents. This transition may be experienced in various ways and have different meanings for different people. Moreover, people make sense and act in relation to a situation as they perceive it [7]. This means that there are various ways of experiencing, influencing people’s perceptions, and make them able to manage situations in more or less efficient ways.