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Diaphragm Ultrasound in Patients with Neuromuscular Disorders
Published in Massimo Zambon, Ultrasound of the Diaphragm and the Respiratory Muscles, 2022
Collagen VI myopathy is another hereditary myopathy that can affect diaphragm function (28). Collagen VI myopathy is in relation to mutations in the COL6A1-3 genes. These diseases include Ullrich congenital muscular dystrophy, the most severe form, and Bethlem myopathy, the milder form (28).
Muscular Dystrophy Diseases
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Because the muscle tissue appearance of these cases is child muscle, the histological features are sometimes subtle and cannot lead to a specific diagnosis. Older children may show features of myopathic dystrophy that were mentioned earlier. CMD is classified into four groups, described in Table 16.1. Although Bethlem myopathy is considered a congenital dystrophy type, it has also been reported in older children and young people. Bear in mind that CMD is always a birth-onset and progresses over life to worse conditions. Pathologists can never diagnose CMD by only clinical history and histology. The muscle histology may show unremarkable or minimal non-specific change. IHC is essential for the analysis of all cases of CMD to visualize and localize the deficient proteins.
Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Unless the pattern of inheritance within a particular family is clear-cut, genetic counselling for the heterogeneous group of congenital myopathies (Table 13.2) should not be undertaken without a clear molecular diagnosis. This may require a muscle biopsy rather more often than is now true for the muscular dystrophies, although accurate molecular diagnoses can increasingly be made on the basis of DNA-based diagnostics. There can be some overlap of clinical features with the (more progressive) muscular dystrophies (e.g. in Bethlem myopathy). Discussion with colleagues at an appropriate expert centre may be very helpful.
Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study
Published in International Journal of Neuroscience, 2023
Cheng Zhang, Cui-jie Wei, Zhe Jin, Jing Ma, Yan-e Shen, Qing Yu, Yan-bin Fan, Hui Xiong, Cheng-li Que
There were 27 cases with the other types of NMDs (including 4 cases of limb-girdle muscular dystrophy, 4 cases of Bethlem myopathy, 2 cases of Emery-Dreifuss muscular dystrophy, 2 cases of reducing body myopathy, 2 cases of hereditary motor and sensory neuropathy, one case of facioscapulohumeral muscular dystrophy, one case of FLNC related myopathy, one case of inflammatory myopathy, one case of MYH7-related myopathy, one case of congenital myasthenic syndrome, one case of congenital myotonia, one case of myasthenia gravis, and 6 cases of other NMD. Among them, there was one child (15-year-old girl) with clinically suspected congenital myasthenic gravis syndrome and the diagnosis was not confirmed genetically. There was one case of myasthenia gravis and one case of inflammatory myopathy enrolled in the present study. The child with myasthenia gravis (13-year-old girl) was negative for all relevant antibodies which have been tested. The child of inflammatory myopathy (10-year-old girl) was immune-mediated necrotizing myopathy and positive for anti-SRP antibody.
The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy
Published in Expert Opinion on Orphan Drugs, 2019
Corrado Angelini, Valentina Pegoraro, Giovanna Cenacchi
In the diagnostic approach the patients with dominant limb-girdle weakness one have to consider: Bethlem myopathy [51] that has a variable degree of muscle weakness affecting legs and arms. The patients develop contractures of hand joints and there is the tightness of Achilles tendon. This dominant form due to a mutation of Collagen VI has also been renamed LGMD D5 in the new ENMC classification.Emery-Dreifuss dystrophy [52] has an early humeroperoneal weakness, limb contractures due to lamin A/C mutation that might share overlapping clinical features with dominant LGMD. It has both an X-linked or autosomal dominant inheritance, but usually presents a prominent heart involvement with conduction block, episodes of fainting, neck and elbow contractures.Facioscapulohumeral Dystrophy [53] is most frequently inheritable muscular dystrophy and typically affects facial scapulohumeral, tibial muscles. It might be confused with an LGMD since in severe cases both shoulder and pelvic girdles are involved. However, facial weakness is absent in LGMD, while asymmetric facial and limb involvement is almost invariably present in FSHD cases.
An update on diagnostic options and considerations in limb-girdle dystrophies
Published in Expert Review of Neurotherapeutics, 2018
Corrado Angelini, Laura Giaretta, Roberta Marozzo
Among genetic entities which need to be differentiated from LGMD and in which specific gene testing is helpful in the differential diagnosis, there are: dystrophinopathies (DMD, Becker dystrophy, female DMD carriers), these cases may present similar onset and pattern of muscle weakness to some LGMD (for instance sarcoglycanopathies). Indeed, several patients diagnosed as LGMD were found to have a dystrophinopathy that might be easily mistaken with FKRP myopathy.facio-scapulo-humeral muscular dystrophy (FSHD) may be confused with calpainopathy with Erb presentation, if both pelvic and shoulder girdles are involved since scapular winging is a common feature, and nonspecific myopathic changes in muscle biopsy can be seen; facial weakness is uncommon in LGMD, this feature may be minimal or appear later even in the course of FSHD. About 8% of patients diagnosed as LGMD actually have FSHD; it should be considered that FSHD might have an atypical presentation with marked asymmetry.Emery–Dreifuss muscular dystrophy may share overlapping clinical features with LGMD, including cardiac involvement and severe joint contractures.Bethlem myopathy, due to mutations in collagen VI genes, may present in childhood and adult life and constitute another differential diagnosis to LGMD, so in the revised ENMC classification this group has been included in LGMD.