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54-540: Shepherd Center was founded in 1975 when Harold and Alana Shepherd traveled to find care for their son James, who was paralyzed from the neck down in a body surfing accident in Rio de Janeiro. Unable to find appropriate rehabilitation measures, the Shepherds began recruiting support from old friends in the community, then from every individual, foundation, and corporation who might help fund Shepherd Center. James served as chairman of

108-463: A CBY1 -beta-catenin mechanism. Mutations at this gene affect the beta-catenin cascade involved in development, causing malformation of the extracellular matrix, resulting in loss of collagen. A lack of collagen here is both consistent with hEDS and explains the "floppy" mitral and aortic valve heart defects. A second genetic study specific to mitral valve prolapse focused on the PDGF signaling pathway, which

162-426: A pseudoathletic appearance , exercise intolerance , myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static symptom ), or premature muscle fatigue (a dynamic symptom ). Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of

216-640: A " marfanoid habitus" characterized by long, slender fingers ( arachnodactyly ), unusually long limbs, and a sunken chest ( pectus excavatum ) or protruding chest ( pectus carinatum ). It can be caused by variations in the gene PLOD1 , or rarely, in the FKBP14 gene. Arthrochalasia EDS (formerly categorized as types 7A and B) is characterized by severe joint hypermobility and congenital hip dislocation . Other common features include fragile, elastic skin with easy bruising, hypotonia , kyphoscoliosis ( kyphosis and scoliosis ), and mild osteopenia . Type-I collagen

270-459: A Model System of Care for spinal cord injury by the U.S. Department of Education ’s National Institute on Disability and Rehabilitation Research (NIDRR). In 2022, the Administration for Community Living’s (ACL) National Institute on Disability, Independent Living, and Rehabilitation Research (NIDILRR) awarded a five-year grant to Shepherd Center. It recognized the rehabilitation hospital as

324-643: A Traumatic Brain Injury Model System (TBIMS). It will officially be known as Georgia Model Brain Injury System at Shepherd Center. Shepherd Center is accredited by The Joint Commission and the Commission on Accreditation of Rehabilitation Facilities (CARF). Neuromuscular disease A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junctions , or skeletal muscles , all of which are components of

378-532: A connective tissue disorder, as the two have separate but not totally confounding etiologies. Eosinophilic esophagitis , an inflammatory condition characterized by allergic-type reactions to various foods and chemicals and extensive esophageal remodeling, is eight times more likely in patients with connective tissue disorders when compared to patients without. Functionally, small bowel dysmotility, delayed gastric emptying and delayed colonic transit are commonly related to EDS. These changes in transit speeds within

432-670: A correlation between connective tissue disorders such as Ehlers–Danlos syndrome and both structural and functional problems within the gastrointestinal tract. High incidences of coexisting inflammatory disorders suggest a correlation between connective tissue disorders and the development of such aforementioned conditions. Inflammatory bowel diseases such as Crohn's disease , ulcerative colitis and celiac disease are more common in EDS patients when compared to control groups. Of note, patients who are already diagnosed with an inflammatory bowel disorder are not necessarily likely to develop symptoms of

486-564: A group of 13 genetic connective-tissue disorders . Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection , joint dislocations , scoliosis , chronic pain , or early osteoarthritis . The current classification was last updated in 2017, when a number of rarer forms of EDS were added. EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines

540-417: A large group of diseases, many of them hereditary or resulting from genetic mutations , where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span. Further causes of neuromuscular diseases are: Inflammatory muscle disorders Tumors Diagnostic procedures that may reveal muscular disorders include direct clinical observations. This usually starts with

594-456: A stroke or tumor. The Multiple Sclerosis (MS) Institute at Shepherd is a treatment and rehabilitation center for people with multiple sclerosis. The Virginia C. Crawford Research Institute at Shepherd Center conducts neurological and neuromuscular research. Shepherd Center's research activities primarily focus on spinal cord injury, brain injury, multiple sclerosis and neuromuscular disorders. Since 1982, Shepherd Center has been designated as

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648-406: A thin nose and lips, and ears without lobes. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot , tendon and/or muscle rupture, acrogeria (premature aging of the skin of the hands and feet), early-onset varicose veins , pneumothorax (collapse of a lung), the recession of the gums, and a decreased amount of fat under

702-467: Is an autosomal-dominant disorder characterized by four major criteria of severe and intractable periodontitis of early-onset (childhood or adolescence), lack of attached gingiva , pretibial plaques, and family history of a first-degree relative who meets clinical criteria. Eight minor criteria may also contribute to the diagnosis of pEDS. Molecular testing may reveal mutations in C1R or C1S genes affecting

756-422: Is caused by trauma(s) to the head and neck areas such as concussion and whiplash. Ligaments in neck are unable to heal properly, so the neck structure does not have the ability to support the skull, which can then sink into the brain stem, blocking the flow of cerebrospinal fluid, which in turn causes autonomic dysfunction. Arnold–Chiari malformation is also more frequently found in patients with EDS because of

810-480: Is common, both conductive and sensorineural, and is most often bilateral. Otosclerosis and instability of the bones in the inner ear may also contribute to hearing loss Because it is often undiagnosed or misdiagnosed in childhood, some instances of EDS have been mischaracterized as child abuse. The pain may also be misdiagnosed as a behavior disorder or Munchausen by proxy . The pain associated with EDS ranges from mild to debilitating. Every type of EDS except

864-455: Is in the genes COL5A2 , COL5A1 , and less frequently COL1A1 . It involves the skin more than hEDS. In classical EDS, large variation in symptom presentation is seen. Because of this variance, EDS has often been underdiagnosed. Without genetic testing, healthcare professionals may be able to provide a provisional diagnosis based on careful examination of the mouth, skin, and bones, as well as by neurological assessment. A good way to begin

918-442: Is involved in growth factor ligands and receptor isoforms. Mutations in this pathway affect the ability to localize cilia in various cell types, including cardiac cells. With the resulting ciliopathies , structures such as the cardiac outflow tract , heart tube assembly, and cardiac fusion are limited and/or damaged. Classical EDS is characterized by extremely elastic skin that is fragile and bruises easily and hypermobility of

972-785: Is no known genetic cause of hEDS. Recently, several labs and research initiatives have been attempting to uncover a potential hEDS gene. In 2018, the Ehlers–Danlos Society began the Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study. The ongoing study has screened over 1,000 people who have been diagnosed with hEDS by the 2017 criteria to evaluate their genome for a common mutation. To date, 200 people with hEDS have had whole genome sequencing , and 500 have had whole exome sequencing; this study aims to increase those numbers significantly. Promising outcomes of this increased screening have been reported by

1026-625: Is not yet known, and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Several medications can help alleviate symptoms of EDS such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness. Some forms of EDS result in a normal life expectancy , but those that affect blood vessels generally decrease it. All forms of EDS can result in fatal outcomes for some patients. While hEDS affects at least one in 5,000 people globally, other types occur at lower frequencies. The prognosis depends on

1080-443: Is not yet known. Splanchnic circulation, small fiber neuropathy and altered vascular compliance have all been named as potential contributors to gastrointestinal complaints, particularly for patients who have a known, comorbid autonomic condition. Chronic headaches are common in patients with Ehlers–Danlos syndrome, whether related to dysautonomia , TMJ , muscle tension, or craniocervical instability . Craniocervical instability

1134-454: Is often seen, which means that when standing on one leg, the pelvis drops on the other side. Osgood–Schlatter disease , a painful lump on the knee, is common as well. In infants, walking can be delayed (beyond 18 months of age), and bottom-shuffling instead of crawling occurs. The weak connective tissue causes abnormal skin. This may present as stretchy or in other types simply be velvet soft. In all types, some increased fragility occurs, but

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1188-401: Is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. It affects the skin less than other forms. It has no available genetic test. hEDS is the most common of the 19 types of connective tissue disorders. Since no genetic test exists, providers have to diagnose hEDS based on what they know about the condition and the patient's physical attributes. Other than

1242-432: Is usually affected. It is very rare, with about 30 cases reported. It is more severe than the hypermobility type. Variations in the genes COL1A1 and COL1A2 cause it. Dermatosparaxis EDS (formerly categorized as type 7C) is associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; hypermobility ranging from mild to serious; and hernias. Variations in

1296-481: The ADAMTS2 gene cause it. It is extremely rare, with around 11 cases reported worldwide. Brittle-cornea syndrome is characterized by the progressive thinning of the cornea , early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae . Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. It has two types. Type 1 occurs due to variations in

1350-500: The CHST14 gene. Some other cases can be caused by variations in the DSE gene. As of 2021, 48 individuals have been reported to have mcEDS-CHST14, while 8 individuals have mcEDS-DSE. Bethlem myopathy 2 , formally known as Myopathic EDS (mEDS), is characterized by three major criteria: congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures of

1404-611: The TNXB gene. Spondylodysplastic EDS is characterized by short stature (progressive in childhood), muscle hypotonia (ranging from severe congenital to mild later-onset), and bowing of limbs. It can be caused by variations in both copies of the B4GALT7 gene. Other cases can be caused by variations in the B3GALT6 gene. People with variations in this gene can have kyphoscoliosis , tapered fingers, osteoporosis , aortic aneurysms , and problems with

1458-545: The ZNF469 gene. Type 2 is due to variations in the PRDM5 gene. Classical-like EDS is characterized by skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility with or without recurrent dislocations (most often shoulder and ankle), and easily bruised skin or spontaneous ecchymoses (discolorations of the skin resulting from bleeding underneath). It can be caused by variations in

1512-524: The C1r protein. Cardiac-valvular EDS (cvEDS) is characterized by three major criteria: severe progressive cardiac-valvular problems (affecting aortic and mitral valves), skin problems such as hyperextensibility, atrophic scarring, thin skin, and easy bruising, and joint hypermobility (generalized or restricted to small joints). Four minor criteria may aid in diagnosis of cvEDS. cvEDS is an autosomal recessive disorder, inherited through variation in both alleles of

1566-612: The motor unit . Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic . Mutations of more than 650 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration , autoimmunity , toxins , medications , malnutrition , metabolic derangements , hormone imbalances , infection , nerve compression/entrapment , comprised blood supply , and trauma . Symptoms of neuromuscular disease may include numbness , paresthesia , muscle atrophy ,

1620-523: The Norris Lab, led by Russell Norris, in the Department of Regenerative Medicine and Cell Biology at Medical University of South Carolina . Using CRISPR Cas-9 mediated genome editing on mouse models of the disease, the lab has recently identified a "very strong candidate gene" for hEDS. This finding, and a greater understanding of cardiac complications associated with the majority of EDS subtypes, has led to

1674-452: The Norris lab is attempting to find this gene is by looking at genes involved in the formation of the aorta and mitral valves, as these valves are often prolapsed or malformed as a symptom of EDS. Because hEDS is such a complex, multi-organ disease, focusing on one hallmark trait has proven successful. One gene found this way is DZIP1 , which regulates cardiac valve development in mammals through

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1728-670: The board of the center prior to his death in December 2019. Alana Shepherd currently serves as the Chairperson of the Board of Directors. Shepherd Center has led to the development of specialized treatment programs for adolescent patients (ages 12–17), adults, seniors (ages 50 and older), dual diagnosis patients, intensive care unit patients, and those with neuromuscular disorders . Shepherd Center offers rehabilitation for people who have had brain injuries, as well as people who have had complications from

1782-795: The collagen disorder Ehlers–Danlos syndrome , exposure to environmental chemicals and poisoning which includes heavy metal poisoning . The failure of the electrical insulation surrounding nerves, the myelin , is seen in certain deficiency diseases, such as the failure of the body's system for absorbing vitamin B-12 . Diseases of the motor end plate include myasthenia gravis , a form of muscle weakness due to antibodies against acetylcholine receptor, and its related condition Lambert–Eaton myasthenic syndrome (LEMS). Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively. Muscular dystrophies , including Duchenne's and Becker's , are

1836-409: The complement pathway. Group F are disorders of intracellular processes, and Group G is considered to be unresolved forms of EDS. Hypermobile EDS (hEDS, formerly categorized as type 3) is mainly characterized by hypermobility that affects both large and small joints. It may lead to frequent joint subluxations (partial dislocations) and dislocations. In general, people with this variant have skin that

1890-705: The degree varies depending on the underlying subtype. The skin may tear and bruise easily, and may heal with abnormal atrophic scars; atrophic scars that look like cigarette paper are a sign seen including in those whose skin might appear otherwise normal. In some subtypes, though not the hypermobile subtype, redundant skin folds occur, especially on the eyelids. Redundant skin folds are areas of excess skin lying in folds. Other skin symptoms include molluscoid pseudotumors, especially on pressure points, petechiae , subcutaneous spheroids, livedo reticularis , and piezogenic papules are less common. In vascular EDS, skin can also be thin and translucent. In dermatosparaxis EDS,

1944-898: The development of multiple druggable pathways involved in aortic and mitral valve diseases. While this candidate gene has not been publicly identified, the Norris lab has conducted several studies involving small population genome sequencing and come up with a working list of possible hEDS genes. A mutation in COL3A1 in a single family with autosomal dominant hEDS phenotype was found to cause reduced collagen secretion and an over-modification of collagen. In 35 families, copy number alterations in TPSAB1 , encoding alpha-tryptase, were associated with increased basal serum tryptase levels, associated with autonomic dysfunction , gastrointestinal disorders , allergic and cutaneous symptoms, and connective tissue abnormalities, all concurrent with hEDS phenotype. Another way

1998-514: The diagnosis process is looking at family history. EDS is an autosomal dominant condition, so is often inherited from parents. Genetic testing remains the most reliable way to diagnose EDS. No cure for type 1 EDS has been found, but a course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms. Anti-inflammatory drugs and lifestyle changes can help with joint pain. Lifestyle choices should also be made with children who have EDS to try to prevent wounds to

2052-425: The diversity of subtypes within the EDS family, symptoms may vary widely between individuals diagnosed with EDS. Musculoskeletal symptoms include hyperflexible joints that are unstable and prone to sprain , dislocation , subluxation , and hyperextension . As a result of frequent tissue injury, there can be an early onset of advanced osteoarthritis , chronic degenerative joint disease, swan-neck deformity of

2106-399: The fetus, and increased bleeding. Individuals with hEDS may run the risk of falling, postpartum depression (more than the general population), and slow healing from the birthing process. The Medical University of South Carolina discovered a gene variant common with hEDS patients. While 12 of the 13 subtypes of EDS have genetic variations that can be tested for by genetic testing , there

2160-638: The fingers, and Boutonniere deformity of the fingers. Tendon and ligament laxity offer minuscule protection from tearing in muscles and tendons, but these problems still persist. Deformities of the spine, such as scoliosis (curvature of the spine), kyphosis (a thoracic hump), tethered spinal cord syndrome , craniocervical instability (CCI), and atlantoaxial instability may also be present. Osteoporosis and osteopenia are also associated with EDS and symptomatic joint hypermobility There can also be myalgia (muscle pain) and arthralgia (joint pain), which may be severe and disabling. Trendelenburg's sign

2214-499: The gastrointestinal system can cause a host of symptoms, including but not limited to abdominal pain, bloating , nausea , reflux symptoms, vomiting , constipation , and diarrhea . Some studies also suggest problems with the liver , which is in large part responsible for bilirubin conjugation. Although research in this area is sparse, patients with joint hypermobility were found to have higher rates of indirect hyperbilirubinemia than control groups. Structurally, changes within

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2268-479: The gene COL1A2 . This group of disorders affects connective tissues across the body, with symptoms most typically present in the joints, skin, and blood vessels. However, as connective tissue is found throughout the body, EDS may result in an array of unexpected impacts with any degree of severity, and the condition is not limited to joints, skin, and blood vessels. Effects may range from mildly loose joints to life-threatening cardiovascular complications. Due to

2322-464: The general signs, attributes can include faulty connective tissues throughout the body, musculoskeletal issues, and family history. Along with these general signs and side effects, patients can have trouble healing. Pregnant individuals who have hEDS are at an increased risk for complications. Some possible complications are pre-labor rupture of membranes, a drop in blood pressure with anesthesia, precipitate birth (very fast, active labor), malposition of

2376-710: The instability at the juncture between skull and spine. This causes herniation of the posterior fossa below the foramen magnum . Increased pressure created by the malformation can lead to a flattened pituitary gland , hormone changes, sudden severe headaches, ataxia , and poor proprioception . Ophthalmological manifestations include nearsightedness , retinal tearing and retinal detachment , keratoconus , blue sclera, dry eye, Sjogren's syndrome , lens subluxation, angioid streaks, epicanthal folds , strabismus , corneal scarring, brittle cornea syndrome, cataracts , carotid-cavernous sinus fistulas , and macular degeneration . Otological complications may also occur. Hearing loss

2430-411: The joints. Molluscoid pseudotumors (calcified hematomas that occur over pressure points) and spheroids (cysts that contain fat occurring over forearms and shins) are also often seen. A side complication of the hyperelasticity presented in many EDS cases makes wounds closing on their own more difficult. Sometimes, motor development is delayed and hypotonia occurs. The variation causing this type of EDS

2484-497: The knee, hip, and elbow, and hypermobility of distal joints (ankles, wrists, feet, and hands). Four minor criteria may also contribute to a diagnosis of mEDS. This disorder can be inherited through either an autosomal dominant or an autosomal recessive pattern. Molecular testing must be completed to verify that mutations in the COL12A1 gene are present; if not, other collagen-type myopathies should be considered. Periodontal EDS (pEDS)

2538-671: The lungs. Other cases can be caused by the SLC39A13 gene. Those with variations in this gene have protuberant eyes, wrinkled palms of the hands, tapering fingers, and distal joint hypermobility. Musculocontractural EDS is characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus ( clubfoot ), characteristic craniofacial features, which are evident at birth or in early infancy, and skin features such as skin hyperextensibility, bruising, skin fragility with atrophic scars, and increased palmar wrinkling. It can be caused by variations in

2592-568: The musculature in the intestine such as increased elastin, can lead to increased frequency of herniation. Laxity of the phreno-esophageal and gastro-hepatic ligaments can lead to hiatal hernia , which in turn can lead to commonly reported symptoms such as acid reflux , abdominal pain, early satiety , and bloating. Internal organ prolapses and intestinal intussusceptions occur with greater frequency in patients with weakened connective tissues. Although neurogastroenterological manifestations in connective tissue disorders are common, their root cause

2646-502: The observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests including electromyography (measuring electrical activity in muscles) and nerve conduction studies . Genetic testing is an important part of diagnosing inherited neuromuscular conditions. Prognosis and management vary by disease. Ehlers%E2%80%93Danlos syndrome Ehlers–Danlos syndromes ( EDS ) are

2700-1054: The skin is extremely fragile and saggy. Weakened connective tissues can lead to pelvic organ prolapse in female patients with Ehlers–Danlos syndrome. Patients may also experience voiding difficulties, frequent urinary tract infections , and incontinence due to structural abnormalities. Pelvic girdle pain is also frequently reported. Menorrhagia , dysmenorrhea , and dyspareunia are common symptoms associated with Ehlers–Danlos syndrome and are often mistaken for endometriosis. Excessive menstrual bleeding can sometimes be attributed to inappropriate platelet aggregation, but faulty collagen leads to weakened capillary walls which increases likelihood of hemorrhage. In cases of pregnancy, patients with Ehlers–Danlos syndrome are more likely to experience complications during parturition . Post-partum hemorrhage and maternal injury such as sporadic pelvic displacement, hip dislocation , torn and stretched ligaments, and skin tearing can all be linked to altered structure of connective tissues. Research suggests

2754-490: The skin. It can be caused by the variations in the COL3A1 gene. Rarely, COL1A1 variations can also cause it. Kyphoscoliosis EDS (formerly categorized as type 6) is associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. People may also have easy bruising, fragile arteries that are prone to rupture, unusually small corneas, and osteopenia (low bone density). Other common features include

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2808-520: The skin. Protective garments can help with this. In a wound, deep stitches are often used and left in place for longer than normal. Vascular EDS (formerly categorized as type 4) is identified by skin that is thin, translucent, extremely fragile, and bruises easily. It is also characterized by fragile blood vessels and organs that can easily rupture. Affected people are frequently short, and have thin scalp hair. It also has characteristic facial features, including large eyes, an undersized chin, sunken cheeks,

2862-776: The specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos , who described them at the turn of the 20th century. In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the Ehlers–Danlos Society , the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing. Group B disorders affect collagen folding and crosslinking. Group C are disorders of structure and function of myomatrix. Group D disorders are those that affect glycosaminoglycan biosynthesis. Group E disorders are characterized by defects in

2916-706: The type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin . Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy , particularly with hEDS, but people may initially be misdiagnosed with hypochondriasis , depression , or myalgic encephalomyelitis/chronic fatigue syndrome . Genetic testing can be used to confirm all other types of EDS. A cure

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