They never answer the phone. Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. These tests include: Treatment for central core disease and multicore disease may involve the use of a drug called albuterol. } When MD affects your heart muscles, it requires immediate medical help. In patients with mild or subclinical BMD, dilated cardiomyopathy may be the presenting feature of the disease. For more, see Signs and Symptoms. Available from Figure 1.. Titin isoforms and mapped disease-associated. Many factors go into determining the overall life expectancy. Duchenne muscular dystrophy promises a bleak future. Gene They can lengthen a persons life and enhance their quality of life if they have DMD. tibial muscular dystrophy outside the Finnish population. Symptoms include weakness in your babys arms, legs and face, droopy eyelids and problems with eye movement. Muscular dystrophy life expectancy in adults. However, scientists are attempting to create novel cures. FDA Approves Biogens Qalsody for Treatment of SOD1-ALS The most common cause of Duchenne life expectancy is cardiomyopathy/respiratory failure. and transmitted securely. 2003;35(6):434-41. doi: 10.1080/07853890310012797. 8600 Rockville Pike 8600 Rockville Pike }, { at all and occur because of a new gene abnormality or mutation. titinopathy caused by mutations in TTN, the gene encoding the giant A common side effect of the disease is inadequate self-care. Usually, a person can experience a variety of symptoms, from mild to severe. Muscle weakness worsens very slowly in people with tibial muscular dystrophy. They can affect their ability to cope with other disorders. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Curr Cardiol Rep. 2022 Sep;24(9):1069-1075. doi: 10.1007/s11886-022-01726-0. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Outlook depends on the type and severity of your childs condition. Muscular dystrophy occurs when one of these genes is defective. A developed methodology of next generation sequencing has recently led to the identification of novel TTN mutations in such diseases. The severity of U.S. Department of Health and Human Services. Accessed Dec. 21, 2019. This type progresses quite slowly and is not that severe either. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. WebAll patients harbor mutations located in exon 343 in the TTN gene that codes for the fibronectin III domain 119 (FN3 119) in the 10th motif of the 11-element motif A-band super-repeat. With the help of modern equipment, we carry out accurate diagnostics. Keywords: 10.1016/s0960-8966(98)00024-8. In most cases, the disease is only slowly progressive; for example, a few patients may eventually lose the ability to walk. A Mutation of Titin Protein Gene Affects About 1% of the Population Epub 2018 Jun 2. It is often characterized by early weakness, gait disturbance, and progressive atrophy of the calf muscles. HHS Vulnerability Disclosure, Help Neurology. If your baby has severe breathing trouble, they may experience respiratory failure or complications such as pneumonia. University of Washington, Seattle; 1993-2023. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. The most prominent of these myopathies is dilated cardiomyopathy (DCM). Next, it passes from mother to son. If you have a mild form of the disease, you have every chance of living a long and happy life. "text": "People with the condition will usually only live into their 20s or 30s. Muscular dystrophy was first Be sure to discuss all the side effects of using steroids on a long term basis. }] Usually diagnosed in your 40s and 60s, the condition often makes no change to your normal lifespan. They may result in issues with heart rate and rhythm. People who have a moderate variety typically live to reach 50 years old. Congenital myopathies: diseases of the actin cytoskeleton Henk Granzier declares that he has no conflicts of interest. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children. privacy practices. We do not endorse non-Cleveland Clinic products or services. ", This content does not have an English version. They live in a state of uncertainty. Symptoms of LGMD usually become noticeable in adolescents between the ages of 8 and 16. Harris E, Tpf A, Vihola A, Evil A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmller H, Bushby K, Udd B, Straub V. Neuromuscul Disord. Congenital means present at birth and myopathy means disease of muscle. Babies with congenital myopathies lack muscle tone at birth. Here is more about different types of MD with their corresponding life expectancy: Anyone suffering from this type of MD is likely to die in his/her early 20s. These medications help improve muscle strength for at least six months and up to two years in some cases. information submitted for this request. information is beneficial, we may combine your email and website usage information with Through physiotherapy, they help preserve flexibility and strength in your muscles. However, typical symptoms include the following: Physical impairment results from this type of muscle wasting. Other types cause disability, and people have a usual lifespan." She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me! Had very positive appointments with Jodie and Dr. Sheth for my migraine care. I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very. Description: rare form of CMD with inward-drawn thumbs, contractures (permanent shortening) of the toe joints, weakness, lack of muscle tone, delayed walking, paralysis of eye muscles and intellectual disability, Inheritance pattern: recessive (requires mutations in both copies of a gene to produce symptoms), Description: weakness beginning within first year; delayed motor milestones; slowly progressive; walking achieved in adolescence; contractures of the joints, neck and spine; progressive cardiomyopathy (cardiac muscle deterioration) beginning ages 5-12; cardiac rhythm abnormalities, Molecular basis: mutations in titin gene, causing deficiency of titin protein; protein normally plays a role in muscle assembly and force transmission in skeletal and cardiac muscles, Description: onset in newborn period; weakness, lack of muscle tone, poor motor function; respiratory failure in some; diminished size of major parts of the brain; joint contractures, Description: nonprogresssive form of CMD with onset by 7 months, weakness, lack of muscle tone, delayed motor milestones, lack of coordination of movements, difficulty speaking, involuntary eye movements and intellectual disability, Inheritance pattern: possibly recessive (requires mutations in both copies of a gene to produce symptoms), Description: onset of progressive weakness and low muscle tone at birth or during early infancy; small muscles; cardiac abnormalities in some; spinal curvatures at 8-14 years; joint contractures; respiratory impairment, Molecular basis: mutations in SEPN1 gene, causing deficiency of SEPN1 protein; protein is thought to play a role in early development or regeneration of muscle tissue, Description: early-onset low muscle tone, weakness; may walk at age 2-3; respiratory involvement with disease progression, Molecular basis: mutations in the integrin-alpha 7 gene, causing a deficiency of the integrin alpha 7 beta 1 protein; protein normally provides a link between muscle fibers and the surrounding matrix, Description: weakness, poor muscle tone and contractures from birth; slowly progressive; walking at 1-3 years; wheelchair later, between teens and 30s; reduced respiratory capacity that does not progress; contractures in some joints and abnormal flexibility in others; spinal curvature possible; normal intelligence, Molecular basis: thought to be due to mutations in the integrin alpha 9 gene, causing a deficiency of the integrin alpha 9 protein; protein normally plays a role in how cells stick to each other and to their surroundings, Description: onset of weakness or poor muscle tone, with skin blistering, at birth; skin blisters with injury and heat; slowly progressive; many need wheelchair by age 10; elbow contractures; respiratory impairment; cardiomyopathy; diminished brain size; treatment with 3,4-diaminopyridine, which increases signal transmission from nerve to muscle, may be helpful, Molecular basis: mutations in the gene for the plectin protein, causing a deficiency of this protein; protein is thought to provide mechanical strength to cells and tissues, Description: low muscle tone and weakness starting in first weeks of life; may sit unassisted but walking not achieved; some muscles enlarged, especially calf muscles; other muscles small, especially in shoulder area; joint contractures in some; cognitive function usually normal; mild intellectual disability or speech problems can occur, Molecular basis: mutations in gene for fukutin-related protein (FKRP), leading to FKRP deficiency; protein normally helps glycosylate (sugar-coat) a protein called alpha-dystroglycan, Description: early-onset weakness with involvement of the diaphragm and respiratory failure; walking at 1.5 to 2.5 years; weakness does not appear to progress; generalized muscle enlargement; contractures in ankles; spinal rigidity in about 50 percent; normal intelligence, Molecular basis: mutations in unknown gene on chromosome 1, Description: onset around 5 months, with low muscle tone and weakness; some muscles enlarged; global developmental delay; profound intellectual disability; contractures of ankles and elbows, Molecular basis: mutations in LARGE gene, leading to deficiency of LARGE protein; protein thought to play a role in sugar-coating (glycosylation) of alpha-dystroglycan protein, Description: rare form of CMD with onset by time of birth; weakness, lack of muscle tone, small muscles; slowly progressive; respiratory involvement possible; most survivors able to walk as children and adults; normal intelligence, Molecular basis: DOK7 gene mutation leading to deficiency of DOK7 protein; protein normally plays a role in forming the connections between nerves and muscles, Description: onset birth to 1 year or during first decade of life; early-onset poor muscle tone, weakness; respiratory capacity often reduced; small muscles; early improvement, followed by stabilization or slow decline; spinal rigidity beginning ages 3-7, with limited ability to flex the neck and spine; spinal curvature beginning ages 4-12 and progressing; joint contractures; minor cardiac abnormalities, if any; normal intelligence, Description: weakness within first year; respiratory involvement; rigid spine, curved spine, curved feet; cardiac rhythm abnormalities in some; premature aging in some; abnormalities of fatty tissue in some, Molecular basis:mutation in lamin A/C gene, causing an abnormality in the lamin A or C proteins; these normally form part of a membrane that surrounds the cell nucleus, Inheritance pattern: dominant (requiring a mutation in only one copy of a gene to produce symptoms), Description: early-onset weakness; developmental delay; reduced respiratory capacity; fatigue; skin abnormalities; hearing loss; straight, rigid spine, Molecular basis: mutations in SBP2 gene, causing deficiency of SBP2 protein; protein normally involved in the production of selenoproteins, Description: poor muscle tone, weakness from birth, with late walking; loss of muscle tissue; cardiomyopathy; intellectual disability; mitochondria (seen in muscle biopsy samples) are enlarged and have an abnormal structure, Molecular basis: mutations in choline kinase beta gene, which leads to deficiency of choline kinase beta protein; protein normally helps make a key substance in muscle and brain, Description: common in Japan; rare in Western countries; spectrum of severity; weakness and low muscle tone within first year; some achieve walking; joint contractures; spinal curvatures; seizures in 50 percent; intellectual disability; eye involvement, Molecular basis: mutations in fukutin gene, causing a deficiency of fukutin protein; protein normally helps sugar-coat (glycosylate) the alpha-dystroglycan protein in muscle and brain tissue, Description: early-onset weakness and low muscle tone; spectrum of severity; some learn to walk at age 2-3 years; spinal curvature; contractures; respiratory impairment; intelligence often normal; seizures in about 20 percent, Molecular basis: mutations in laminin alpha 2 gene, leading to deficiency of laminin alpha 2 protein; leads to deficiency of laminin 211 protein, also known as merosin; protein normally helps connect muscle fiber with surrounding matrix, Description: examples are CMD with early spinal rigidity; CMD with muscle hypertrophy; CMD with muscle hypertrophy and respiratory failure; CMD with myasthenic syndrome; and Ullrich CMD; see individual listings for different types, Molecular basis: variety of gene mutations, causing variety of protein defects that do not affect merosin protein, Description: low muscle tone at birth; slow development; intellectual disability; eye abnormalities, Molecular basis: Mutations in POMGnT1 gene, causing deficiency of POMGnT1 protein; protein normally helps sugar-coat (glycosylate) the alpha-dystroglycan protein, Description: early-onset weakness, poor muscle tone; severity varies; some joints have contractures; some joints have hyperlaxity (excessive flexibility); spinal rigidity, curvature; respiratory impairment; soft skin; normal cardiac function; normal intelligence, Molecular basis: mutations in COLGA1, COL6A2 or COL6A3 genes, causing deficiency of or abnormalities in collagen 6 protein; protein normally has an anchoring function in many tissues, including the matrix surrounding muscle fibers, Inheritance pattern: dominant (requiring a mutation in only one copy of a gene to produce symptoms) or recessive (requires mutations in both copies of a gene to produce symptoms), Description: early-onset weakness with brain and eye abnormalities; intellectual disability, Molecular basis: mutations in B3GNT1 gene, causing deficiency of the B3GNT1 protein; protein normally helps sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in POMT1 gene, causing deficiency of POMT1 protein; protein normally helps sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in POMT2 gene, causing deficiency of POMT2 protein; protein normally helps sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in ISPD gene, causing deficiency of the ISPD protein; protein normally helps sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in GTDC2 gene, causing deficiency of the GTDC2 protein; protein may help sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in TMEM5 gene, causing deficiency of the TMEM5 protein; protein may help sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: mutations in B3GALNT2 gene, causing deficiency of the B3GALNT2 protein; protein normally helps sugar-coat (glycosylate) alpha-dystroglycan, Molecular basis: Mutations in SGK196 gene, causing deficiency of SGK196 protein; protein normally may help sugar-coat (glycosylate) alpha-dystroglycan, Muscular Dystrophy Association National Office, 800-572-1717 | ResourceCenter@mdausa.org. If you have Duchenne MD, you are likely to develop scoliosis, which require surgery. Titin mutations and muscle disease - PubMed But it depends on the form of the disease. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit Patients with DMD, however, have a shorter life expectancy. Hackman JP, Vihola AK, Udd AB. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkila H, Ingo S, Kalimo However, treatment can aid in symptom relief and life quality maintenance. This type of MD progresses slowly and you notice symptoms during your teenage years only. Current time: 05/01/2023 05:32:08 a.m. UTC If you have a family history of myopathy and plan on becoming pregnant, discuss genetic testing with your healthcare provider. Symptoms: May start to appear as a Child. There can be significant heart involvement. Your doctor may use different treatment strategies to deal with your swallowing problems. I am appreciative of thiswe spend a lot of time with doctors and this was top notch start to finish. Vikhorev PG, Vikhoreva NN, Yeung W, Li A, Lal S, Dos Remedios CG, Blair CA, Guglin M, Campbell KS, Yacoub MH, de Tombe P, Marston SB. But once more, it depends on how serious the illness is. Accessed Dec. 21, 2019. The office is very clean and the staff very friendly. Your doctor will devise a plan keeping your symptoms in mind. They will also change the consistency of your food and teach you certain exercises to improve swallowing. Once inserted into the cell, the gene should be able to produce the alpha-sarcoglycan protein. de Seze J, Udd B, Haravuori H, Sablonniere B, Maurage CA, Hurtevent JF, Boutry Well examine the different forms of muscular dystrophy in this post. Characteristic symptoms of this disease may include: This illness can cause spinal abnormalities if it is not treated. Bobby who handles my infusions is great. At one point I couldn't complete two assessments and got upset and cried. My doctor and PA were great, but the office staff. In these patients, average lifespan is reduced. Dystrophin is a protein that everyone needs for muscle health. Life Expectancy of Muscular Dystrophy in Adults You will be at an increased risk of chocking some people even develop chest infections when food gets into the lungs, which may negatively affect your muscular dystrophy life expectancy. It is vital to understand that people with the disease face serious complications. Genetic Testing Registry: Tibial muscular dystrophy, National Organization for Rare Disorders (NORD). Udd B, Haravuori H, Kalimo H, Partanen J, Pulkkinen L, Paetau A, Peltonen L, Joint contractures and heart conduction abnormalities may result. What is the prognosis of a genetic condition? Over 60 genes are linked to the etiology of DCM, but by far, the leading cause of DCM is mutations in TTN with truncating variants in TTN (TTNtvs) associated with familial DCM in 20% of the cases. Just such an amazing staff that makes you feel like part of their family. Congenital myopathy is a rare genetic condition that causes muscle weakness. Parkinsons Disease and Other Movement Disorders, Muscular Dystrophy Life Expectancy in Adults, Muscular Dystrophy: Symptoms, Causes, and Treatment, Muscle Cramps All Over the Body: What Should Know. She is very caring and knowledgeable. The complications of progressive muscle weakness include: Mayo Clinic does not endorse companies or products. In addition, the heart and lungs are often affected over time. PublicDomainPictures / Pixabay. It was a nice visit. Autism & Developmental Medicine Institute, Geisinger Commonwealth School of Medicine, Our DEI Council, Steering Committees and Employee Resource Groups, Geisinger Health Foundation impact report, Geisinger Shamokin Area Community Hospital, Department of Imaging Science and Innovation, Geisinger MyCode Community Health Initiative. Truncation mutations of TTN have been identified as the most frequent genetic cause of dilated cardiomyopathy. "@type": "Answer", Careers. skeletal-muscle protein titin. Becker Muscular Dystrophy Life Expectancy These disorders vary in age of onset, severity, and pattern of affected muscles. How can gene variants affect health and development? Webdid you hear about the farmer who gave his rooster Category. This is not how you want to run your practice. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. However, if your child has a mild condition, they may grow up to live a full life. 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event, (https://www.merckmanuals.com/home/children-s-health-issues/muscular-dystrophies-and-related-disorders/congenital-myopathies), (https://www.mda.org/disease/congenital-myopathies), (https://www.ninds.nih.gov/Disorders/All-Disorders/Congenital-Myopathy-Information-Page), (https://rarediseases.org/rare-diseases/myopathy-congenital-batten-turner-type/). One of the most typical inquiries patients ask is about longevity. Centronuclear myopathy is a very rare congenital myopathy. It can even cause hypotonia and impaired motor function. I feel like you will take care of my needs! This can lead to life-threatening consequences and reduce muscular dystrophy life expectancy quite significantly. Muscular Dystrophy 2023 Feb 15;25(2):217-222. doi: 10.7499/j.issn.1008-8830.2208163. The doctor is great. Calves are often enlarged. With muscular dystrophy, some people have symptoms at birth, but others develop symptoms throughout childhood or adulthood. Bethesda, MD 20894, Web Policies Mutations in the TPM3 gene, ACTA1 gene, TPM2 gene, MYH7 gene and RYR1 gene have been found in children with congenital fiber-type disproportion myopathy. Handb Clin Neurol. (2014) identified 7 novel homozygous or compound heterozygous TTN mutations (5 in the M-line; 5 truncating; see, e.g., 188840.0014 and 188840.0015) in 5 patients in 4 of 23 families with congenital myopathy and cardiomyopathy. Muscular Dystrophy Urinary N-terminal fragment of titin is a marker to diagnose muscular dystrophy in patients with cardiomyopathy. The Lancet Neurology. Duchenne Muscular Dystrophy (DMD) is a rare muscle disorder characterized by progressive degeneration and wasting (atrophy) of the body muscles. In: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. On average, we can say 30-35 years of life expectancy. The staff is very friendly and always work with you to find the best appointment time. WebCurrently GARD aims to provide the following information for this disease: Population Estimate: Fewer than 5,000 people in the U.S. have this disease. Yoshihisa A, Kiko T, Sato T, Oikawa M, Kobayashi A, Takeishi Y. Clin Chim Acta. Because it enables patients to receive prompt medical attention, early diagnosis is essential. mutations in C-terminal titin may cause more severe tibial muscular dystrophy Muscular dystrophy can be divided into many types. Here are some of the options available. A major issue for those with muscular dystrophy is longevity. Sign up for a consultation with our neurologist right now by phone: 214-619-1910. But there is a lot of voluntary research underway. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! It is because the symptoms get worse over time. Talk to your childs healthcare provider about your childs specific condition. Myofibrillar Myopathy (MFM) is an extremely rare type of muscular dystrophy; Myopathy, which literally means muscle disease in Greek, causes wasting and consequential weakness of the affected muscles. DMD is a rare genetic condition that is characterized by progressive muscle damage and weakness due to the loss of dystrophin protein that typically starts in males at a very Copyright WWW.NEWHEALTHADVISOR.ORG 2014, All rights Reserved. A specific type of muscular dystrophy falls within the DMD umbrella. See text for details. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox. WebMutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. 2017;3(4):e1602814. Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746. We recently generated a novel genetically Avidity Biosciences Granted FDA Fast Track Designation for AOC If not treated properly, a person may spend less than 20 years. Symptoms of the most common variety begin in childhood, mostly in boys. Muscular dystrophy - Symptoms and causes - Mayo Clinic Your cardiologist may prescribe ACE inhibitors, beta-blockers, or other medication to treat heart problems. However, it is a frequent genetic disorder that affects one in every 3500 male children born globally. Jodie Moore is his provider and she is amazing! Epub 2008 Oct 22. 2002 Sep;71(3):492-500. doi: Generalized weakness first affects muscles of the hips, pelvic area, thighs, and shoulders. Unable to load your collection due to an error, Unable to load your delegates due to an error, Titin isoforms assembled from the metatranscript, cardiac N2BA, cardiac N2B, skeletal muscle N2A, Novex3 and Cronos transcripts (from top to bottom). Myofibrillar Myopathy You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. All rights reserved. Happy staff doing all they can do to comfort the patients in a very calming environment. Privacy Policy | Terms of Use | State Fundraising Notices, Outside Organization Programs & Information, Healthcare Providers and Researchers Newsletter Sign-up, About Congenital Muscular Dystrophy (CMD), Types Of Congenital Muscular Dystrophy (CMD). I was told, it's OK. That's why you're here. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. With congenital myopathy, symptoms are present at birth or develop during infancy or childhood. At one. NEW YORK, April 25, 2023 The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) accelerated approval of Qalsody (tofersen), for the treatment of amyotrophic lateral sclerosis (ALS, also known as Lou Gehrigs disease) associated with mutation in the superoxide dismutase 1 (SOD1) gene The staff are ALWAYS friendly and knowledgeable. Cardiomyopathy; Dilated cardiomyopathy; Muscular dystrophy; Titin; Urinary titin fragment. 2020 Jul 30;11:834. doi: 10.3389/fphys.2020.00834. NINDS muscular dystrophy information page. If we combine this information with your protected This condition has also been found in people of Finnish descent living in other countries. DMD causes progressive weakening of the skeletal muscles. "@context": "https://schema.org", Dr. JODIE is very caring and understanding to your needs. Unauthorized use of these marks is strictly prohibited. What are the different ways a genetic condition can be inherited? Darras BT. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Epub 2019 Oct 25. Cleveland Clinic is a non-profit academic medical center. Epub 2002 Jul 26. WebThere is no current cure for Duchenne muscular dystrophy (DMD), a rare genetic disease in young male patients, and the males worldwide and the life expectancy of DMD patients is typically around 20 years [1 ]. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :). MD can make daily living difficult. Therefore he spent a Hugh amount of time educating me. include protected health information. 2019 Jun;131:12-19. doi: 10.1016/j.yjmcc.2019.04.014. Ann Neurol. information highlighted below and resubmit the form. Placebo-controlled clinical trials are underway in hopes of slowing or stopping the progression of LGMD and reducing or eliminating its effect on life expectancy. It results in progressively weaker muscles all across the body. However, a team of specialists will work with you to prolong the life of your child and make them as comfortable and functional as possible.