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Duchenne Muscular Dystrophy
Published in Charles Theisler, Adjuvant Medical Care, 2023
Duchenne muscular dystrophy is a rare progressive genetic disorder that occurs primarily in males and which eventually causes muscle degeneration and weakness. It is caused by a lack of the protein dystrophin. Symptoms first occur in childhood between the ages of three and five and involve the muscles of the shoulders, hips, and thighs. The child may typically have difficulty jumping, running, and walking along with enlarged calves due to fat deposits or fibrotic tissue. All voluntary muscles are eventually affected. In later stages, muscle degeneration involves the heart and breathing muscles.1
Genetics
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
Which of the following statements are true and which are false? Becker’s muscular dystrophy is associated with the DMD gene.Huntington’s disease (HD) is an autosomal dominant, trinucleotide repeat disorder of ‘GAC’.von Recklinghausen’s disease is a neuro-ectodermal syndrome associated with neurofibromatosis type 2.Friedreich’s ataxia is an autosomal dominant, trinucleotide repeat disorder of‘GAA’.Amyotrophic lateral sclerosis (ALS) is associated with a defect in superoxide dismutase 1 and is progressive and fatal.
Diaphragm Ultrasound in Patients with Neuromuscular Disorders
Published in Massimo Zambon, Ultrasound of the Diaphragm and the Respiratory Muscles, 2022
Duchenne muscular dystrophy (DMD) is a neuromuscular disease, due to dystrophin gene defect. This disease is characterized by a progressive reduction of lung volumes with the onset of a restrictive pulmonary pattern, nocturnal followed by diurnal hypoventilation (39). Ultrasound can be used in DMD to assess and follow the respiratory status. Diaphragm thickness is lower in DMD patients in comparison with healthy persons (40). In addition, diaphragm ultrasound parameters decrease with age in DMD (41). Finally, tissue Doppler imaging can be used to monitor diaphragm function (Figure 9.3).
Defining ambulation status in patients with Duchenne muscular dystrophy using the 10-metre walk test and the motor function measure scale
Published in Disability and Rehabilitation, 2023
Danila Cristina Petian-Alonso, Ani Caroline de Castro, Gabriela Barroso de Queiroz Davoli, Edson Zangiacomi Martinez, Ana Claudia Mattiello-Sverzut
Duchenne muscular dystrophy (DMD) affects children at a rate of 1:5,000 births [1]. It is an inherited disease associated with a mutation in the gene located in the Xp21 locus, which is responsible for encoding the dystrophin protein [2]. This mutation can be a deletion, duplication, or other rearrangement that interrupts RNA reading. Dystrophin is a costamere protein linked to the dystrophin-glycoprotein complex that longitudinally stabilizes intracellular elements during muscle contractions [2,3]. The absence of dystrophin favours skeletal and cardiac muscle damage due to the destabilization of the sarcolemma and consequent greater susceptibility to injury and fibre necrosis [4]. Therefore, patients with DMD have a diffuse and recurrent condition of muscle fibre injury that culminates in the replacement of muscle by fibroadipose tissue [5].
Shaping the future from the small scale: dry powder inhalation of CRISPR-Cas9 lipid nanoparticles for the treatment of lung diseases
Published in Expert Opinion on Drug Delivery, 2023
Simone P. Carneiro, Antonietta Greco, Enrica Chiesa, Ida Genta, Olivia M. Merkel
Cheng and colleagues [105] designed Selective Organ Targeting (SORT) LNPs for CRISPR-Cas9 mRNA and sgRNA delivery aiming to reach the lungs, spleen, and liver and selectively modify therapeutically relevant cells such as T cells, B cells, and hepatocytes. Kenjo and colleagues [54] studied a new therapeutic approach for the treatment of Duchenne muscular dystrophy. They developed pH-dependent ionizable lipids with three hydrophobic tails employed to formulate LNPs for the transient delivery of Cas9 mRNA and sgRNA to the skeletal muscle tissues in vivo. This therapeutic approach allowed the repeated injection of LNPs to cover all skeletal muscle. Moreover, investigating the limb perfusion injection method (interesting for the targeting of multiple skeletal muscle groups), LNPs were administered in smaller volumes, compared to conventional hydrodynamic injection, due to the enhanced release of CRISPR-Cas9 from LNPs. Considering the treatment of patients, the injection of small volumes is a huge advantage to avoid compartment syndrome. In comparison to approved antisense oligonucleotide drugs, the effect of LNP-delivered CRISPR-Cas studied by Kenjo was maintained over months. Interestingly, the treated cells did not show mutagenesis overcoming the off-target limitation; however, different candidate DNA cleavage sites were identified.
12-Month changes of muscle strength, body composition and physical activity in adults with dystrophinopathies
Published in Disability and Rehabilitation, 2022
Matthew F. Jacques, Gladys L. Onambele-Pearson, Neil D. Reeves, Georgina K. Stebbings, Ellen A. Dawson, Rachel C. Stockley, Bryn Edwards, Christopher I. Morse
Duchenne (DMD) and Beckers (BMD) Muscular Dystrophy (MD) are two genetic conditions resulting in progressive muscle weakness and declining muscle mass [1]. Unlike many other forms of MD, which affect a variety of different proteins associated with the sarcolemma [2], DMD and BMD are unique in that they are both affected by impairment of the same protein, named Dystrophin [3,4]. DMD results from an absent or non-functioning dystrophin protein, therefore is more progressive, with loss of ambulation by the age of 12 [5,6]. BMD in comparison is caused by a partially functioning dystrophin protein, therefore a slower and more variable form of MD, with the loss of ambulation in adulthood [5,6]. Despite the well acknowledged genetic understanding of these conditions [3,4,7–9], and a breadth of research assessing health and function in children with DMD [10–17], basic understanding of the progression of these conditions and impact on function and health measures remains minimal in adult populations [18].