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hypoventilation","onset_id":null,"reference":"ORPHA:324604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fcfa4b6d13df3c44b09e0ce483a924e91b68b3a78e70074d22b3f9f3d713a208","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602771","disease_name":"Rigid spine muscular dystrophy 1","evidence":"PCS","frequency_raw":"7/17","hpo_id":"HP:0003306","is_excluded":false,"label":"Spinal rigidity","onset_id":null,"reference":"PMID:11528383","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fd62b5a6443f87eb34cb9bcf0e970b3e29012a5b4cb36db460239eb7276fe484","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:324604","disease_name":"Classic multiminicore myopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030319","is_excluded":false,"label":"Weakness of facial musculature","onset_id":null,"reference":"ORPHA:324604","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/multiminicore-disease\">Multiminicore disease</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy\">Rigid spine muscular dystrophy</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the SELENON and RYR1 genes have been found to cause about half of all cases of multiminicore disease.</p><p>About 30 percent of cases of multiminicore disease, primarily the classic form, are caused by variants in the SELENON gene. This gene provides instructions for making a protein called selenoprotein N. This protein is highly active in many tissues before birth and may be involved in the formation of muscle tissue (myogenesis). The protein may also be important for normal muscle function after birth, although it is active at much lower levels in adult tissues. This protein is thought to play a role in maintaining an appropriate balance of calcium (calcium homeostasis) in cells. Calcium plays an important role in muscle movement. It is unclear, however, how variants in the SELENON gene lead to muscle weakness and the other features of multiminicore disease.</p><p>An estimated 20 percent of multiminicore disease, primarily the non-classic forms, are caused by variants in the RYR1 gene. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move.</p><p>Variants in the RYR1 gene change the structure and function of the ryanodine receptor 1 protein and the calcium channel that it forms. The abnormal calcium channel alters the normal flow of stored calcium ions within muscle cells. A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease. RYR1 gene variants are also associated with an increased risk of malignant hyperthermia.</p><p>It is likely that individuals with multiminicore disease who do not have a known variant in either of these two genes have variants in other genes that underlie the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/multiminicore-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Multiminicore disease?"},{"bodyHtml":"<p>Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. The forms of multiminicore disease are the classic form, the progressive form with hand involvement, the antenatal form with arthrogryposis, and the ophthalmoplegic form.</p><p>The classic form accounts for about 75 percent of cases of multiminicore disease. This form causes muscle weakness beginning in infancy or early childhood. The muscles of the torso and neck (axial muscles) are most affected with arm and leg muscles less so. Muscle weakness causes affected infants to appear &quot;floppy&quot; (hypotonic) and they may have feeding problems early in life. Muscle weakness can delay the development of motor skills such as sitting, standing, and walking. In this form, the muscles of the ribcage and spine become stiff. In addition, the muscles needed for breathing are weak. This combination of muscle weakness and stiffness leads to severe or life-threatening respiratory problems. Almost all children with the classic form develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens over time.</p><p>The progressive form with hand involvement causes muscle weakness and looseness of the joints (joint laxity) in the arms and hands. Individuals with this form may experience muscle pain (myalgia) or extreme fatigue in response to physical activity (exercise intolerance). This form accounts for about 10 percent of cases of multiminicore disease.</p><p>The antenatal form with arthrogryposis is characterized by stiff, rigid joints throughout the body (arthrogryposis) and distinctive facial features. Weakness in the muscles needed for breathing can result in breathing problems for affected individuals. This form also accounts for about 10 percent of cases of multiminicore disease.</p><p>The ophthalmoplegic form of multiminicore disease is characterized by paralysis of the eye muscles (external ophthalmoplegia). This can lead to abnormal eye movements and droopy eyelids (ptosis). This form of the condition can also cause weakness in the muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. The ophthalmoplegic form accounts for 5 to 10 percent of cases of multiminicore disease.</p><p>Many people with multiminicore disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate (tachycardia) and body temperature (hyperthermia), abnormally fast breathing (tachypnea), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.</p><p>Multiminicore disease gets its name from small, disorganized areas called minicores, which are found in skeletal muscle cells of many affected individuals. These abnormal regions can only been seen when muscle tissue is viewed under a microscope. Minicores are often present in cells with few or no mitochondria, which are the energy-producing centers within cells. Although the presence of minicores can help doctors diagnose multiminicore disease, it is unclear how they are related to muscle weakness and the other features of this condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/multiminicore-disease\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Rigid spine muscular dystrophy</summary><p>Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.</p><p>In RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.</p><p>A characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.</p><p>The combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.</p><h3>Causes</h3><p>Mutations in a gene called SELENON (formerly SEPN1) cause about 40 percent of cases of RSMD. When caused by mutations in this gene, the condition is known as rigid spine muscular dystrophy 1 (RSMD1). The genetic cause of the remainder of cases is unknown.</p><p>The SELENON gene provides instructions for making a protein known as selenoprotein N. The specific job of selenoprotein N is unknown, but researchers suspect it plays a role in the formation of muscle tissue before birth. It may also be important for normal muscle function after birth. The gene mutations that cause RSMD1 are thought to reduce the amount of selenoprotein N or impair its activity in cells. It is unclear how a shortage of working selenoprotein N leads to muscle weakness and other features of RSMD1.</p><p>RSMD1 is part of a spectrum of muscle disorders called SELENON-related (or SEPN1-related) myopathy, which also includes the classic form of multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and a small subset of cases of congenital fiber-type disproportion. While these other disorders share the characteristic features of RSMD1, they each also involve distinctive abnormalities of the muscle fibers that can only be seen when viewed under a microscope. Because these conditions have a similar pattern of signs and symptoms and are caused by mutations in the same gene, many researchers believe that they are all part of a single syndrome with variable signs and symptoms. It is unclear why mutations in the SELENON gene cause the different muscle fiber abnormalities that distinguish the separate conditions.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy\">MedlinePlus: Rigid spine muscular dystrophy</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"multiminicore-disease","sourceDocuments":[{"name":"Multiminicore disease","reviewed":"2007-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:31.838859+00:00","label":"Causes","pageSha256":"7aab9bc63f00c5908890b2906724a5b63d36fdd53df76dad1b09b896060ef79b","sourceUrl":"https://medlineplus.gov/genetics/condition/multiminicore-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/multiminicore-disease"},{"name":"Rigid spine muscular dystrophy","reviewed":"2019-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:45.841345+00:00","label":"Causes","pageSha256":"af2b646b9098a88343732d7fc3b6298276cd93d50dda592ae4e706d426ffaaee","sourceUrl":"https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Multiminicore disease"},"schemaVersion":1}