Current management of Duchenne muscular dystrophy in the Middle East: expert report

Abstract

Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to address different aspects of the current management of DMD in the Middle East, north Africa (MENA) region, and to gather experts’ recommendations on how to optimally diagnose and treat patients suffering from this disease. Methods: A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region. A list of practical statements was prepared by the chair of the meeting to guide the discussions around critical aspects relating to the current and future management of DMD. Results & conclusion: Ideally, DMD management should be a multidisciplinary approach. Nevertheless, few tertiary care hospitals in the region are currently able to provide the full spectrum of medical expertise and services needed by DMD patients. Clinical practice in the region remains heterogeneous. Specific guidelines for diagnosis and treatment are needed in the MENA region to improve outcomes. Disease awareness among the general public and the medical community is lacking. Now that mutation-specific therapies are being developed and more widely studied, general education programs regarding early signs and symptoms, a standardized referral and diagnosis pathway, patient registries and support groups will significantly improve the management of the disease.

Welcome to the 10th volume of Neurodegenerative Disease Management

“…• Our highest score was for the previously mentioned 'Current management of Duchenne muscular dystrophy in the Middle East: expert report' (Altmetric score: 24) [2]; • Another high scoring manuscript was an editorial describing the European DLB consortium, a multicenter and global effort to establish an international consensus on diagnostic criteria for dementia with Lewy bodies (Altmetric score: 12) [4] trials' [5], and Rajesh Tampi (Yale School of Medicine, CT, USA) and colleagues' review 'Personality and the risk factors for developing behavioral and psychological symptoms of dementia: a narrative review' (Altmetric scores: 11 apiece) [6].…”

“…Another of our more popular reads was a White Paper titled 'Current management of Duchenne muscular dystrophy in the Middle East: expert report' by Edward Cupler (King Faisal Specialist Hospital & Research Centre, Tihamah, Saudi Arabia) and his colleagues, which are based in institutions across the Middle East [2]. The article highlights the need for an increase in public engagement in the disease and specific guidelines for clinicians, as well as underlining how most hospitals in the region cannot provide the full range of care necessary for Duchenne muscular dystrophy.…”

Duchenne muscular dystrophy: problems of differential diagnosis and treatment

“…Характерним для початку захворювання є незграбна, важка хода або біг, труднощі під час піднімання сходами, спотикання і часті падіння, труднощі зі стрибками. Особливо типовим сим птомом класичної МДД є прийом Говерсапотреба в сторонній допомозі, щоб встати з під логи, або перебирання руками по підлозі для здо буття рівноваги [8,14,24].…”

“…Розвиваються псевдогі пертрофії литкових м'язів і язика, спричинені заміною м'язової тканини на жирову і сполучну. Типовою є хода з широко розставленими ногами, перевалювання під час ходьби («качина хода»), хода з випнутими грудьми (або зігнутою, згор бленою або вигнутою спиною) [8,14,24].…”

“…Діти з МДД часто потрапляють у поле зору гепатологів із підозрою на ураження печінки у зв'язку з підви щеним рівнем трансаміназ. У разі виявлення підвищеного рівня креатинкінази і/або трансамі наз проводять генетичне тестування для пошуку мутацій у гені DMD [1,10,14,24].…”