{"id":111703,"date":"2025-06-16T15:32:17","date_gmt":"2025-06-16T06:32:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/"},"modified":"2025-08-22T12:07:43","modified_gmt":"2025-08-22T03:07:43","slug":"lgmdr1-calpainopathy-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en","title":{"rendered":"Overview of Limb-Girdle Muscular Dystrophy Type 1 (LGMDR1)"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Name_and_Classification\" >Name and Classification<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Gene_Location_and_Function\" >Gene Location and Function<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Alternate_Names\" >Alternate Names<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Clinical_Description\" >Clinical Description<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Epidemiology\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Genetics_and_Etiology\" >Genetics and Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Symptoms\" >Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Common_Symptoms\" >Common Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Rare_Symptoms\" >Rare Symptoms<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Diagnosis\" >Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Blood_Tests\" >Blood Tests<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Electromyography_EMG\" >Electromyography (EMG)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Imaging\" >Imaging<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Muscle_Biopsy\" >Muscle Biopsy<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Protein_and_Genetic_Analysis\" >Protein and Genetic Analysis<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Treatment_and_Management\" >Treatment and Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Physical_Therapy_and_Exercise\" >Physical Therapy and Exercise<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Assistive_Devices\" >Assistive Devices<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Respiratory_and_Cardiac_Support\" >Respiratory and Cardiac Support<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Experimental_Therapies\" >Experimental Therapies<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#Key_Terms\" >Key Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=en\/#References\" >References<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Name_and_Classification\"><\/span><strong>Name and Classification<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>CAPN3<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CAPN3-hgtIdeo_genome_asia_2ff8b_f90c50-1024x26.png\" alt=\"\" class=\"wp-image-101406\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>LGMDR1 was historically referred to as Limb-Girdle Muscular Dystrophy Type 2A (LGMD2A). In 2017, the classification system changed. The \u201cR\u201d in LGMDR1 stands for recessive inheritance, indicating that the disease typically occurs when two copies of the faulty gene are inherited. Both terms\u2014LGMD2A and LGMDR1\u2014refer to the same disorder, and both may appear in medical literature.<br><strong>The Role of the CAPN3 Gene<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Gene_Location_and_Function\"><\/span><strong>Gene Location and Function<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The CAPN3 gene is located on chromosome 15 (region 15q15.1) and spans over 52,000 base pairs. It produces Calpain 3, a calcium-dependent cysteine protease. This protein is critical for muscle health, breaking down and recycling damaged proteins and stabilizing the sarcomere, the structural unit within muscle fibers.<\/p>\n\n\n\n<p>When CAPN3 is mutated, the protein either malfunctions or is absent, disrupting muscle repair and leading to progressive weakness.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Alternate_Names\"><\/span><strong>Alternate Names<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CAPN3 is also known by several synonyms, including CANP3, p94, nCL-1, LGMDR1 (Recessive type 1), and the older name LGMD2A.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Clinical_Description\"><\/span><strong>Clinical Description<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGMDR1 is a progressive muscular dystrophy. It mainly affects proximal muscles\u2014the muscles closer to the body\u2019s center, such as those in the hips, thighs, shoulders, and upper arms. Intellectual function is not impaired, and heart complications are rare but possible.<\/p>\n\n\n\n<p>Onset typically occurs between ages 8 and 30, although earlier or later onset can happen. Over time, the gradual loss of muscle strength impacts mobility, posture, and overall physical function.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidemiology\"><\/span><strong>Epidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Globally, LGMDR1 affects about 8.3 individuals per million. Some regions report higher rates, such as northeastern Italy at approximately 26.5 cases per million. It accounts for roughly 30\u201332% of all limb-girdle muscular dystrophies, making it the most common subtype.<\/p>\n\n\n\n<p>Higher prevalence is noted in areas with genetic founder effects, including parts of Brazil, India, and the Mediterranean.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetics_and_Etiology\"><\/span><strong>Genetics and Etiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGMDR1 is most often inherited in an autosomal recessive pattern, meaning both parents must pass on a mutated CAPN3 gene. Rarely, a dominant form (classified as LGMDD4) occurs when only one altered gene copy is enough to cause the disease.<\/p>\n\n\n\n<p>Over 500 different mutations in CAPN3 have been identified, including:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Missense mutations, where a single amino acid in the protein is replaced<br><\/li>\n\n\n\n<li>Splice-site mutations that disrupt gene processing<br><\/li>\n\n\n\n<li>Intron mutations in non-coding regions<br><\/li>\n\n\n\n<li>Frameshift mutations, insertions, and deletions<br><\/li>\n<\/ul>\n\n\n\n<p>These genetic changes impair Calpain 3\u2019s ability to regulate calcium flow, remodel muscle fibers, support mitochondrial function, and maintain structural proteins.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span><strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Common_Symptoms\"><\/span><strong>Common Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Symptoms vary widely but often include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Gradual weakness in the muscles of the hips, thighs, shoulders, and arms<br><\/li>\n\n\n\n<li>Difficulty running, climbing stairs, or rising from the floor<br><\/li>\n\n\n\n<li>Gower\u2019s sign, where hands are used to push oneself upright<br><\/li>\n\n\n\n<li>Scapular winging, where shoulder blades protrude<br><\/li>\n\n\n\n<li>Lordosis and other posture-related changes<br><\/li>\n\n\n\n<li>Muscle pseudohypertrophy, where muscles appear enlarged due to fat infiltration<br><\/li>\n\n\n\n<li>Joint contractures and stiffness<br><\/li>\n\n\n\n<li>Muscle pain, fatigue, or soreness after exertion<br><\/li>\n\n\n\n<li>Elevated blood levels of creatine kinase (CK), sometimes up to 80 times the normal level<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Rare_Symptoms\"><\/span><strong>Rare Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Some individuals may also experience facial muscle weakness, camptocormia (forward flexion of the spine), metabolic-like symptoms, or rare childhood-onset associations such as eosinophilic myositis.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnosis\"><\/span><strong>Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Diagnosis combines clinical evaluation with laboratory and imaging studies to confirm the presence and type of muscular dystrophy.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Blood_Tests\"><\/span><strong>Blood Tests<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Blood tests often reveal significantly elevated CK levels and, in some cases, mild elevation of liver enzymes such as AST and ALT.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Electromyography_EMG\"><\/span><strong>Electromyography (EMG)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EMG studies can detect myogenic changes in muscles, though early stages of the disease may yield normal results.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Imaging\"><\/span><strong>Imaging<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Muscle MRI typically shows fatty replacement and muscle atrophy, particularly in the thighs, pelvis, and calves.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Muscle_Biopsy\"><\/span><strong>Muscle Biopsy<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A biopsy may reveal variable fiber size, evidence of muscle cell death and regeneration, fibrosis, central nuclei, and lobulated fibers.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Protein_and_Genetic_Analysis\"><\/span><strong>Protein and Genetic Analysis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Protein analysis by immunostaining or Western blot often shows reduced or absent Calpain 3. Genetic testing, using methods such as next-generation sequencing and Sanger sequencing, can identify specific mutations.<\/p>\n\n\n\n<p>New techniques now allow testing for CAPN3 expression in skin fibroblasts or urine, which may eventually reduce the need for invasive muscle biopsies.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_and_Management\"><\/span><strong>Treatment and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>There is no cure for LGMDR1, but treatment focuses on slowing progression, preserving muscle function, and managing symptoms.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Physical_Therapy_and_Exercise\"><\/span><strong>Physical Therapy and Exercise<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Regular stretching and low-impact strength training can help maintain range of motion and delay contractures. Exercise should remain within comfortable limits to avoid overexertion.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Assistive_Devices\"><\/span><strong>Assistive Devices<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Orthotic supports, braces, and wheelchairs may be used to improve mobility and stability as the disease progresses.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Respiratory_and_Cardiac_Support\"><\/span><strong>Respiratory and Cardiac Support<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Although less common, respiratory decline may require non-invasive positive pressure ventilation. Regular monitoring of cardiac function is also recommended.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Experimental_Therapies\"><\/span><strong>Experimental Therapies<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Research into potential treatments includes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Glucocorticoids<\/strong>: Studied for their anti-inflammatory effects, but benefits remain limited.<br><\/li>\n\n\n\n<li><strong>Myostatin inhibitors<\/strong>: Shown to increase muscle size without significant functional improvement.<br><\/li>\n\n\n\n<li><strong>Wnt pathway activators<\/strong>: Promising early results for improving slow-twitch muscle fibers.<br><\/li>\n\n\n\n<li><strong>Gene therapy<\/strong>: Using AAV vectors to deliver a functional CAPN3 gene is under investigation.<br><\/li>\n\n\n\n<li><strong>Antisense oligonucleotide (ASO) therapy<\/strong>: Designed for certain missense mutations.<br><\/li>\n\n\n\n<li><strong>Genome editing and stem cell therapy<\/strong>: Still in experimental stages but hold long-term potential.<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The disease course varies, influenced by the age of onset, type of genetic mutation, and other factors such as sex.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Individuals with early-onset forms tend to experience faster progression.<br><\/li>\n\n\n\n<li>Those with complete loss of Calpain 3 generally have more severe symptoms.<br><\/li>\n\n\n\n<li>On average, loss of independent walking occurs 15\u201325 years after symptom onset.<br><\/li>\n\n\n\n<li>Respiratory complications affect about 11% of European cases, while significant cardiac involvement remains rare.<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Key_Terms\"><\/span><strong>Key Terms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Muscular Dystrophy<\/strong>: A group of genetic conditions causing progressive muscle weakness.<br><\/li>\n\n\n\n<li><strong>Limb-Girdle<\/strong>: Describes the initial muscle groups affected, mainly around the shoulders and hips.<br><\/li>\n\n\n\n<li><strong>Calpain 3<\/strong>: The protein encoded by the CAPN3 gene, critical for muscle repair and stability.<br><\/li>\n\n\n\n<li><strong>Sarcomere<\/strong>: The structural and functional unit of muscle fibers responsible for contraction.<br><\/li>\n\n\n\n<li><strong>Autosomal Recessive Inheritance<\/strong>: A genetic pattern where two copies of a faulty gene are needed for the disease to appear.<br><\/li>\n\n\n\n<li><strong>Creatine Kinase (CK)<\/strong>: An enzyme released into the bloodstream when muscle tissue is damaged.<br><\/li>\n\n\n\n<li><strong>Gower\u2019s Sign<\/strong>: Using hands to assist in standing up due to proximal muscle weakness.<br><\/li>\n\n\n\n<li><strong>Scapular Winging<\/strong>: Shoulder blades protruding abnormally due to muscle weakness.<br><\/li>\n\n\n\n<li><strong>Contracture<\/strong>: Stiffness or tightening of joints that reduces mobility.<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Pseudohypertrophy<\/strong>: Apparent muscle enlargement caused by fatty or fibrous replacement rather than true muscle growth.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span>References<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1410727\">Feng, Wanjun, et al. \u2018Case Report: A Novel Mutation of the CAPN3 Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy Type 2A\u2019. <em>Frontiers in Genetics<\/em>, vol. 15, Aug. 2024, p. 1410727. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fgene.2024.1410727.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0043-1772833\">Lorenzoni, Paulo Jos\u00e9, et al. \u2018Single-Centre Experience with Autosomal Recessive Limb-Girdle Muscular Dystrophy: Case Series and Literature Review\u2019. <em>Arquivos de Neuro-Psiquiatria<\/em>, vol. 81, no. 10, Oct. 2023, pp. 922\u201333. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1055\/s-0043-1772833.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/cells13040329\">Aguti, Sara, et al. \u2018Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)\u2019. <em>Cells<\/em>, vol. 13, no. 4, Feb. 2024, p. 329. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/cells13040329.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3233\/JND-200547\">Pathak, Pankaj, et al. \u2018Mutational Spectrum of <em>CAPN3<\/em> with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A\/R1 (LGMD2A\/LGMDR1) Patients in India\u2019. <em>Journal of Neuromuscular Diseases<\/em>, vol. 8, no. 1, Oct. 2020, pp. 125\u201336. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3233\/JND-200547.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/22143602251345967\">Bardakov, Sergey N., et al. \u2018Calpainopathy (Limb-Girdle Muscular Dystrophy Type R1): Clinical Features, Diagnostic Approaches, and Biotechnological Treatment Methods\u2019. <em>Journal of Neuromuscular Diseases<\/em>, June 2025, p. 22143602251345967. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1177\/22143602251345967.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3892\/ijmm.2021.5036\">Chen, Lin, et al. \u2018CAPN3: A Muscle\u2011specific Calpain with an Important Role in the Pathogenesis of Diseases (Review)\u2019. <em>International Journal of Molecular Medicine<\/em>, vol. 48, no. 5, Sept. 2021, p. 203. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3892\/ijmm.2021.5036.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/pathophysiology28020016\">\u015eahin, \u0130zem Olcay, et al. \u2018Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches\u2019. <em>Pathophysiology<\/em>, vol. 28, no. 2, May 2021, pp. 238\u201349. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/pathophysiology28020016.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\"\n  },\n  \"headline\": \"\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08LGMDR1\uff09\u306e\u3084\u3055\u3057\u3044\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": 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