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Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A small number of patients present in infancy or early childhood with a predominantly skeletal muscle disease without cardiac disease [23, 24]. They may have lordosis or scoliosis, and may require surgical treatment. There may be localized pseudohypertrophy [25]. These patients display a more slowly progressive disease and death occurs by 19 years from pneumonia or respiratory failure. An emerging phenotype has been observed in patients with infantile Pompe disease, surviving “long term” (≥5 years) [26]. All had low anti-glucosidase antibodies. All had improved cardiac features, and 11 were independently ambulatory.
The nervous system
Published in Peter Kopelman, Dame Jane Dacre, Handbook of Clinical Skills, 2019
Peter Kopelman, Dame Jane Dacre
With regard to the appearance of the muscles, wasting is characteristically seen in LMN lesions, but may also occur as a result of poor nutrition with weight loss, malignancy and injury, leading to disuse as a consequence of immobility of a muscle group. In the latter case, strength may be relatively well preserved in relation to the degree of wasting. Occasionally, muscles appear hypertrophied but are weak on testing (pseudohypertrophy). This situation is found in muscular dystrophy, where the muscles are infiltrated by fat and connective tissue.
Neurology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Muscle pseudohypertrophy (↑ muscle mass + ↓ power):1 Certain muscle diseases.
Wilhelm Erb (1840–1921), an influential German founder of neurology in the nineteenth century
Published in Journal of the History of the Neurosciences, 2021
First described by Landouzy and Déjérine in 1884 and two months later by Erb, the pathology facioscapulohumeral muscle atrophy was named Erb-Landouzy-Déjérine disease. The muscle biopsy showed atrophies and hypertrophies of muscle fibers, and an increase of connective tissue and fatty replacement of degenerated muscle fibers (lipomatosis), thus indicating seemingly hypertrophic muscles (pseudohypertrophy), for example, of the calves (Erb 1884; 1891). Later on, shoulder girdle and pelvic girdle types were encountered in one and the same families, and gross genetic assignment showed a sex-linked recessive inheritance for the infantile Duchenne type; for the juvenile limb-girdle type, an autosomal recessive inheritance in both sexes; for the facioscapulohumeral type (Erb-Landouzy-Déjérine), an autosomal dominant (rarely recessive) variety; and for the benign pelvic-girdle Type (Becker), an X-linked recessive inheritance (Becker 1953). On the occasion of Erb’s 125th birthday in 1965, the progress of myology was the topic of a symposium titled, “Progressive Muscle Dystrophy, Myotony, and Myasthenia” (Kuhn 1966).
Motor activity and Becker’s muscular dystrophy: lights and shadows
Published in The Physician and Sportsmedicine, 2020
Giuseppe Lanza, Marcello Pino, Francesco Fisicaro, Carla Vagli, Mariagiovanna Cantone, Manuela Pennisi, Rita Bella, Maria Bellomo
Onset usually occurs in childhood and can present in several ways. In children, the first feature may be a toe walking gait or exercise-related cramps with or without myoglobinuria. As the condition progresses, muscle weakness leads to functional difficulties (e.g. difficulty climbing stairs or rising from a chair). Clinical examination reveals muscle pseudohypertrophy affecting the calf muscles and there may be atrophy of more proximal muscles, such as the quadriceps as well as other limb-girdle muscles. There is symmetrical and proximal muscle weakness, with the lower limbs being more severely affected than the upper limbs. There may also be joint contractures, especially of the Achilles’ tendon, although they do not occur in the first phase of the disease. The condition is slowly progressive and about 40% of the affected patients eventually become wheelchair-dependent [1]. Restrictive respiratory insufficiency (due to weakness of the intercostals and diaphragm muscles) and cardiomyopathy (which can be disproportionate to the extent of skeletal muscle involvement) are the main causes of death [2,3]. As for the most severe form of dystrophinopathy, i.e. Duchenne’s muscular dystrophy (DMD), no causative therapy of BMD is currently available. Its management is usually multidisciplinary, and includes neurologists, physiatrists, cardiologists, pulmonologists, physiotherapists, speech therapists, occupational therapists, psychologists, orthopedics, and kinesiologists.
Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy
Published in Fetal and Pediatric Pathology, 2018
Jingjing Jiang, Tiejia Jiang, Jialu Xu, Jue Shen, Feng Gao
Duchenne muscular dystrophy (DMD MIM#310200) is an allelic X-linked recessive disorder caused by mutations in DMD gene which encodes dystrophin. DMD affects approximately 1/3500 live male newborns (1). Female carriers of the DMD gene are usually asymptomatic or show mild symptoms. Gene mutations affect the expression of dystrophin in striated muscle tissue, resulting in progressive degeneration and necrosis of the proximal limb muscles. The majority of children have a bilateral pseudohypertrophy of the gastrocnemius muscle. This is due to the atrophy of the muscle fibers, which then are filled with fat, the strength of the muscle is weakened, but it is hard to the touch. The typical clinical manifestation is retrogression of motor development. Patients have a special “duckstep” gait, proximal muscle weakness, calf hypertrophy, weak tendon reflexes, positive Gower sign, increased serum creatine kinase (CK), while the myocardial cells undergo progressive damage. The onset age of DMD in children is generally between 3 and 5 years of age, is progressive, with loss of independent ambulation before age 13. Death is often from respiratory failure and/or heart complications at about 20 years of age.