scholarly journals Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

2021 ◽  
Vol 9 ◽  
Author(s):  
Fouad Alghamdi ◽  
Asmaa Al-Tawari ◽  
Hadil Alrohaif ◽  
Walaa Alshuaibi ◽  
Hicham Mansour ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Management ◽  
Best Practice ◽  
Middle Eastern ◽  
Genetic Diagnosis ◽  
Signs And Symptoms ◽  
Best Practice Guidelines ◽  
Related Quality

The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life.

scholarly journals AYURVEDIC MANAGEMENT OF DUCHENNE MUSCULAR DYSTROPHY: A SHORT REVIEW

2019 ◽  
Vol 7 (1) ◽  
pp. 179-183
Author(s):  
Akshay A Patankar ◽  
Renu B Rathi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Social Contact ◽  
Signs And Symptoms ◽  
Short Review ◽  
Receptive Language ◽  
Modern Medicine ◽  
Autism Spectrum ◽  
Neuromuscular Disorder ◽  
Significant Treatment

Duchenne muscular dystrophy is a neuromuscular disorder characterized by deficient dystrophin protein in the muscle. The main symptoms the patient presented were delay in expressive and receptive language development, visual discontent, hyperkinetic behaviour, and inability to initiate and maintain social contact with peers. The data obtained from the family, following clinical examination, laboratory investigation results and assessment of mental status were significant for the diagnosis of Autism Spectrum Disorder, hyperkinetic behaviour and Duchenne Muscular Dystrophy. In Ayurveda it has been classified under Medomamsa dusti further vitiates the Vata doshas occurs due to the Bheejabagahaavyava Dusti. In modern medicine there is no significant treatment available for this diseases while in Ayurvedic panchakrma therapy shows significant results in all signs and symptoms of this diseases.

scholarly journals A.01 The relationship between fatigue and health-related quality of life in a clinical trial population of Duchenne muscular dystrophy patients

2017 ◽  
Vol 44 (S2) ◽  
pp. S8-S8
Author(s):  
Y Wei ◽  
B El-Aloul ◽  
C Nguyen ◽  
E Zapata-Aldana ◽  
C Campbell
Keyword(s):  
Quality Of Life ◽  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Parent Report ◽  
Health Related Quality ◽  
Patient Report ◽  
Related Quality ◽  
Health Related

Background: Fatigue was recently reported to be the largest contributor to poor health-related quality of life (HRQOL) in paediatric Duchenne muscular dystrophy (DMD). Additional studies are necessary to confirm the generalizability of this finding. Our objective was to explore the longitudinal relationship between fatigue and HRQOL in an additional cohort of DMD patients. Methods: We performed a secondary analysis of data from a clinical trial (NCT00592553), which enrolled patients with nonsense mutation DMD, aged 5–20 years, from 37 sites in 11 countries (N=174). Fatigue and HRQOL were assessed using the PedsQLTM Multidimensional Fatigue Scale and Generic Core Scales, respectively, by patient- and parent-report at baseline and over 48 weeks. Results: Patients reported greater fatigue than healthy controls from published data. There was no significant difference between patient- and parent-reported fatigue. Fatigue was significantly correlated with worse HRQOL at baseline, by patient-report (r=0.70, P<0.001) and parent-report (r=0.70, P<0.001); and at 48 weeks, by patient-report (r=0.79, P<0.001) and parent-report (r=0.74, P<0.001). Change in fatigue was significantly correlated with change in HRQOL over 48 weeks, by patient-report (r=0.64, P<0.001) and parent-report (r=0.67, P<0.001). Conclusions: Fatigue is a major contributor to HRQOL in DMD. The strong association between fatigue and HRQOL corroborates previous studies, and suggests that reducing fatigue may improve HRQOL.

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

scholarly journals P.072 Agreement between children and their parents’ ratings of the health-related quality of life of children with Duchenne Muscular Dystrophy

2018 ◽  
Vol 45 (s2) ◽  
pp. S35-S35
Author(s):  
S Brar ◽  
C Campbell ◽  
E McColl ◽  
W Martens ◽  
M McDermott ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Self Report ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related ◽  
Parent Proxy ◽  
Level Of Agreement

Background: When measuring young Duchenne Muscular Dystrophy (DMD) patients’ health-related quality of life (HRQoL), parent-proxy reports are heavily relied on. Therefore, it is imperative that the relationship between parent-proxy and child self-report HRQoL is understood. This study examined the level of agreement between children and their parent-proxy rating of the child’s HRQoL. Methods: We used FOR-DMD clinical trial baseline data. HRQoL, measured using the PedsQL inventory, was reported by 178 parent and child (ages 4 to 7 years) dyads. Intracorrelation coefficients (ICC) measured absolute agreement while paired t-tests determined differences in the average HRQoL ratings between groups. Results: The level of agreement between child and parent-proxy ratings of HRQoL was poor for the generic PedsQL scale (ICC: 0.29) and its subscales; and, similarly low for the neuromuscular disease module (ICC:0.16). On average, parents rated their child’s HRQoL as poorer than the children rated themselves in all scales except for psychosocial and school functioning. Conclusions: Child and parent-proxy HRQoL ratings are discordant in this study sample, as occurs in other chronic pediatric diseases. This should be taken into account when interpreting clinical and research HRQoL findings in this population. Future studies should examine reasons for parents’ perception of poorer HRQoL than that reported by their children.

scholarly journals EMQN Best Practice Guidelines for molecular genetic testing of SCAs

2010 ◽  
Vol 18 (11) ◽  
pp. 1173-1176 ◽  
Author(s):  
Jorge Sequeiros ◽  
◽  
Joanne Martindale ◽  
Sara Seneca
Keyword(s):  
Genetic Testing ◽  
Practice Guidelines ◽  
Best Practice ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Best Practice Guidelines
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