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Rare Diseases and Orphan Diseases

28 December 24 Useful information ، muscle diseases ، Terminology Rare diseases vs. orphan diseases ، Definition of rare diseases ، Orphan diseases and drug development ، Rare disease prevalence by country ، Challenges in rare disease research ، Neglected diseases and orphan status ، Duchenne muscular dystrophy rare disease ، Rare disease treatment limitations
Rare Diseases and Orphan Diseases
Rare diseases affect a small percentage of the population, with Duchenne muscular dystrophy (DMD) and cystic fibrosis as examples. Orphan diseases, however, lack adequate treatment options regardless of prevalence. While most rare diseases are orphan diseases, some common conditions like malaria can be considered orphan due to low commercial interest. Both face limited research, diagnostic challenges, and treatment barriers, requiring greater investment in drug development.
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Several muscle diseases 5 : DYSF (Dysferlin) , Miyoshi Myopathy

20 February 24 Useful information ، muscle diseases DYSF gene mutation ، Dysferlin deficiency and muscle disease ، Miyoshi myopathy causes and symptoms ، Limb-girdle muscular dystrophy type 2B ، Progressive muscle weakness in dysferlinopathies ، Distal muscle atrophy disorders ، Therapies for Miyoshi myopathy
Several muscle diseases 5 : DYSF (Dysferlin) , Miyoshi Myopathy
This article explores DYSF mutations and Miyoshi Myopathy, detailing the role of dysferlin in muscle membrane repair and how its deficiency leads to muscle degeneration.
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Several muscle diseases 4 : Skeletal Muscle FSHD

19 February 24 Useful information ، muscle diseases Progressive muscle weakness disorders ، FSHD muscular dystrophy ، Facioscapulohumeral muscular dystrophy causes ، DUX4 gene expression in FSHD ، Skeletal muscle dystrophy symptoms ، Autosomal dominant muscle diseases ، FSHD genetic mechanisms
Several muscle diseases 4 : Skeletal Muscle FSHD
This article discusses facioscapulohumeral muscular dystrophy (FSHD), its genetic mechanisms, symptoms, and current research on potential treatments.
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Several muscle diseases 3: LGMD2I, LGMD2B

19 February 24 Useful information ، muscle diseases LGMD2I muscular dystrophy ، LGMD2B causes and symptoms ، Limb-girdle muscular dystrophy types ، DYSF gene mutation and muscle weakness ، FKRP deficiency and glycosylation defects ، Dysferlin role in muscle regeneration ، Genetic muscle diseases with progressive weakness
Several muscle diseases 3: LGMD2I, LGMD2B
This article discusses LGMD2I and LGMD2B, two subtypes of limb-girdle muscular dystrophy, their genetic causes, symptoms, and current management options.
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Several muscle diseases 2: ZNF9 BMD MC-AD DMD TMD

19 February 24 Useful information ، muscle diseases ZNF9 muscular dystrophy ، BMD vs DMD comparison ، Myotonia congenita autosomal dominant (MC-AD) ، Duchenne muscular dystrophy (DMD) symptoms ، Tibial muscular dystrophy (TMD) causes ، Genetic mutations in muscle diseases ، Progressive muscle weakness disorders
Several muscle diseases 2: ZNF9 BMD MC-AD DMD TMD
This article discusses multiple muscle diseases, including ZNF9, BMD, MC-AD, DMD, and TMD, highlighting their genetic causes, symptoms, and disease progression.
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Several muscle diseases 1: DM1 DM2 DMx DM-like DMPK

19 February 24 Useful information ، muscle diseases DM1 myotonic dystrophy ، DM2 vs DM1 symptoms ، DMx muscle disease classification ، DMPK gene mutation ، Myotonia congenita and Thomsen disease ، Genetic causes of myotonic dystrophy ، DM-like conditions ، Muscle stiffness and weakness disorders
Several muscle diseases 1: DM1 DM2 DMx DM-like DMPK
This article explores various muscle diseases, including DM1, DM2, and DMx, detailing their genetic causes, symptoms, and the role of DMPK in myotonic dystrophy.
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