"Rare Diseases" and "Orphan Diseases" are terms often used interchangeably, but they have distinct meanings and implications, particularly in the context of medical research and drug development. Here's an explanation of both, along with their differences:   Rare Diseases - Definition: A rare disease is one that affects a small percentage of the population. The exact threshold for rarity varies by region:   - United States: Affects fewer than …

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DYSF (Dysferlin): Dysferlin is a protein associated with Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). Dysferlin plays a crucial role in muscle membrane repair and regeneration. Mutations in the DYSF gene lead to deficiencies in dysferlin, resulting in impaired membrane repair mechanisms and progressive muscle degeneration. Individuals with dysferlinopathies, including Miyoshi Myopathy and LGMD2B, typically experience weakness in the proximal muscles, particularly in the shoulder and pelvic girdle …

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Skeletal Muscle FSHD (Facioscapulohumeral Muscular Dystrophy): Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the face, shoulders, and upper arms. FSHD is associated with a contraction of the D4Z4 repeat sequence on chromosome 4, leading to decreased repression of the DUX4 gene. Abnormal expression of the DUX4 gene is thought to contribute to muscle degeneration in FSHD. This …

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1. LGMD2I (Limb-Girdle Muscular Dystrophy Type 2I - FKRP Deficiency): LGMD2I is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness and wasting, particularly affecting the muscles around the shoulders and hips. It is caused by mutations in the FKRP gene, leading to a glycosylation defect. This defect interferes with the proper glycosylation of alpha-dystroglycan, a protein crucial for maintaining muscle cell structure and function. The compromised glycosylation results …

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1. ZNF9 (Zinc Finger Protein 9): Mutations in the ZNF9 gene are associated with a type of myotonic dystrophy. Similar to DM1 and DM2, it involves muscle weakness and myotonia, but it represents a distinct genetic cause.   2. BMD (Becker Muscular Dystrophy): BMD is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene. It shares similarities with Duchenne Muscular Dystrophy (DMD) but generally has a later …

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1. DM1 (Myotonic Dystrophy Type 1): DM1 is a genetic disorder characterized by progressive muscle wasting and weakness. It is an autosomal dominant condition caused by an expanded CTG trinucleotide repeat in the DMPK gene. Individuals with DM1 may experience myotonia (prolonged muscle contraction), weakness in facial and distal muscles, cardiac issues, and intellectual impairment.   2. DM2 (Myotonic Dystrophy Type 2): Similar to DM1, DM2 is an autosomal dominant …

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