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Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Delayed motor milestones are apparent in a boy, particularly walking. There is a waddling gait as a result of the proximal muscular weakness and calf ‘pseudohypertrophy’. A positive Gowers sign is found, where the arms are used to rise from a seated position on the floor. About 30% have a mild nonprogressive learning disability.
Muscular dystrophy and arthritis
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Early signs of MD include slow motor gains, low Apgar scores, and poor muscle tone. Changes in gait are evident during walking by 3 to 5 years of age, as are clumsiness and frequent falls, a wider base of support, a waddling gait, and difficulty rising from the floor. Running and jumping are often affected by awkward movements and are characterized by lack of stability. Usually the disease progresses minimally until 7 years of age, when rapid decline in functioning is evident. A wheelchair is needed for ambulation by 10 to 13 years of age (NINDS, 2013). Symptoms of both forms of Duchenne MD are similar. Slowness of gait, pseudohypertrophy of the calves (the calves appear muscular but in realty are weakening because the muscle tissue is replaced by fat, fibrous tissue), and Gowers’ sign are the first noticeable characteristics of the disease. Gowers’ sign is a characteristic of Duchenne MD that affects children while attempting to stand erect. While bending over, children place their hands on the knees and then move alternately up the thighs to achieve a standing position (Figure 15.2). Weakness is often observed proximally, with subtle changes in gait and initial difficulty in locomotor patterns and a tendency toward being clumsy. In addition, the neck flexors are weak, and children may demonstrate difficulties in lifting and controlling their head and neck.
Section 9
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
DMD is a muscular dystrophy, which presents with delayed walking beyond 18 months and calf pseudohypertrophy. Gower sign is positive due to weakness of proximal muscle at hips. Features similar to those in DMD may present later on in life in Becker dystrophy. Both are defects in the dystrophin gene - DMD is characterised by a total lack of functional dystrophin, Becker with decreased amounts of the protein. Frontal baldness and cataracts are seen in myotonic dystrophy. Diagnoses to consider in a floppy infant include spinal muscular atrophy, Down's syndrome, Prader-Willi syndrome and other metabolic disorders.
Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy
Published in Expert Opinion on Biological Therapy, 2021
Anne-Fleur E. Schneider, Annemieke Aartsma-Rus
Duchenne muscular dystrophy (DMD) is one of the most common inherited muscle wasting disorders [1]. Symptoms become apparent in early childhood and encompass delayed development of motor skills and muscle weakness. One of the most prominent early features is proximal muscle weakness, illustrated by the classic Gowers sign, where patients need the use of their arms to support their weight and legs while rising from the floor. Throughout the course of the disease, muscle fibers are gradually replaced by fibrotic and adipose tissue and patients lose motor functions, resulting in loss of ambulation in the early teens, the gradual loss of arm function during the teenage years and the need for assisted ventilation around the age of 20 [2–4]. Most patients die in the 2nd-4th decade due to respiratory or heart failure [2–4]. Currently, corticosteroids are often used as symptomatic treatment to slowdown disease progression though this comes at the costs of side effect [2–4].
Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy
Published in Expert Opinion on Orphan Drugs, 2020
Corrado Angelini, Valentina Pegoraro
The sarcoglycanopathies’ phenotypes are similar to those of dystrophinopathies, except for the absence of cognitive dysfunction [2,3,10] and the more frequent occurrence of scapular winging. The most common presentation is a DMD-like phenotype with the onset of weakness in childhood (especially in LGMD2C/R5, LGMD2E/R4), and the disease is more rapid and severe than in other LGMDs (table 2). Most SG patients have a severe and rapid course, leading to the loss of independent walking ability before age 30–40 years [4]. On average, the earlier the onset, the more rapid the progression, but in some cases the progression is not linear. Tiptoe walking in early childhood is often present before muscle weakness is detected (Figure 2). Adult-onset patients may be seen especially in LGMD2D/R3 and LGMD2C/R5. The ability to rise from the floor (presence of Gowers’ sign), and to run, jump, and hop, as well as sporting ability, may be affected in childhood or may be normal even until middle age. Muscle hypertrophy, especially of the calves and the tongue, is common [2,3].
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
Published in Acta Clinica Belgica, 2019
Meltem Koca, Abdulsamet Erden, Berkan Armagan, Alper Sari, Fatih Yildiz, Sevim Ozdamar, Umut Kalyoncu, Omer Karadag
A 23-year-old woman was presented with the complaints of myalgia and muscle weakness of proximal parts of all extremities. She described difficulty in climbing stairs and rising from chair for the last six months. She had no rheumatic symptoms; her medical history was negative for any drug/toxin induced myopathies or exercise induced myositis. On the physical examination, she had mild muscle weakness (grade 4/5 for all proximal muscle groups), and Gowers’ sign was positive. Her TSH and vitamin B12 levels were within normal limits, CK and LDH were 1139 U/L and 1104 U/L, respectively. ALT was 59 U/L and AST was 101 U/L. The tests for ANA, ENA, and antineutrophil cytoplasmic antibody (ANCA) were negative, serum levels of complement proteins C3 and C4 were within normal limits (103 mg/dl and 27.5 mg/dl, respectively) and ESR was 25 mm/h. The capillaroscopic examination was also totally normal. The MRI of thigh muscles was reported as normal. The TTE and the hepatic ultrasonography were in normal limits, as well. Her EMG findings were consistent with myopathy, so we conducted a muscle biopsy from biceps brachii which showed vacuolar degeneration in fifty percent of fibers and excessive fat accumulation with oil-red-O staining (Figure 1(b)). Urinary organic acid analysis was consistent with the multiple acyl-CoA dehydrogenase deficiency and treatment with riboflavin and carnitine was started. Then, her muscle weakness gradually improved.