They often present with both weakness and sensory loss in a “ glove and stocking” fashion. [lecturio.com]

Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

* About two thirds of patients present at 8-15 years of age, with a range of 2-40 years. * The most typical presentation is of weakness due to scapular-humeral-pelvic weakness that may be similar to the presentation of facioscapulohumeral dystrophy. [checkorphan.org]

Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable. [chs-journal.com]

It usually presents within the first decade of life. The most common presenting complaint is primarily myalgia, followed by ‘rippling muscles’ and proximal muscle weakness [ 68 ]. [content.iospress.com]

• Falling

  Fractures and falls Owing to weakness, contractures and poor balance, patients with LGMD1 are at high risk of frequent falls. [mdfgauteng.org]

  When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child. [mayoclinic.org]

  This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor or from a chair. As the condition progresses, they may start to have problems with walking and may need to use a wheelchair over time. [treat-nmd.eu]

  Early symptoms can include: a waddling gait pain and stiffness in the muscles difficulty running and jumping walking on the toes difficulty sitting up or standing learning disabilities, such as developing speech later than usual frequent falls As the [medicalnewstoday.com]

  'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls [rarediseases.info.nih.gov]

• Difficulty Climbing Stairs

  LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk. Creatine kinase (CK) levels can be normal to moderately elevated. [mdfgauteng.org]

  They may also experience difficulty running and climbing stairs. Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been. [rarediseases.org]

  climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 Reduced muscle fiber merosin 0030092 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

• Difficulty Walking

  [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 [rarediseases.info.nih.gov]

  Difficulties in rising from a chair or toilet seat and difficulties in climbing stairs are common. Eventually walking may become so difficult that a wheelchair or scooter is necessary for locomotion. [encyclopedia.com]

  These patients will have difficulty walking (and will find it even harder to walk on their toes). [lecturio.com]

• Underweight

  Note micro- or macrocephaly, stature, overweight or underweight status. Functional assessment Musculoskeletal System: Assess muscle bulk for patterns of hypertrophy and atrophy. Look for any asymmetry. [now.aapmr.org]

• Proximal Muscle Weakness

  Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. [ncbi.nlm.nih.gov]

  Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Muscle weakness may spread from the proximal muscles to affect distal muscles. [rarediseases.org]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

  Hypothyroid myopathy Patients can present with a proximal weakness. They may complain of fatigue or muscle pain and cramping. They have relaxation of the reflexes at an advanced stage of the disease. [lecturio.com]

  In this study, we applied the IDP on a PGM to diagnose a Vietnamese female who presented with proximal muscle weakness. Using this strategy, we identified a nonsense mutation in CAPN3 responsible for LGDM2A. [omicsonline.org]

• Osteoporosis

  Osteopenia and osteoporosis due decreased mobilization and immobilization. This can give rise to fractures and scoliosis. Cardiac failure due to cardiomyopathies. [lecturio.com]

  If there is concern for osteoporosis, exercise can be low impact such as swimming and stationary bicycle. Educate patients on the warning signs of over exertion such as dark colored urine (indicating myoglobinuria), muscle pain or cramps. [now.aapmr.org]

• Waddling Gait

  gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent [rarediseases.info.nih.gov]

  Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

  Signs and symptoms, which typically appear in early childhood, might include: Frequent falls Difficulty rising from a lying or sitting position Trouble running and jumping Waddling gait Walking on the toes Large calf muscles Muscle pain and stiffness [mayoclinic.org]

  Early symptoms can include: a waddling gait pain and stiffness in the muscles difficulty running and jumping walking on the toes difficulty sitting up or standing learning disabilities, such as developing speech later than usual frequent falls As the [medicalnewstoday.com]

• Gowers Sign

  Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5. [lecturio.com]

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

  Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'. [patient.info]

• Dizziness

  She had no dizziness, paroxysmal nocturnal dyspnea, orthopnea, palpitations or chest pain at this moment though had trace lower extremity swelling. On evaluation by her health care provider, her manifestations have been attributed to her LGMD. [pubs.sciepub.com]

  Episodes of palpitations were not associated with chest pain, dizziness or syncope. There was no history of orthopnoea, paroxysmal nocturnal dyspnoea, cough or leg swelling. He had never been diagnosed of any form of cardiac disease. [chs-journal.com]

• Creatine Phosphokinase Increased

  […] serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Muscular dystrophy 0003560 Proximal muscle weakness [rarediseases.info.nih.gov]

There is no specific treatment for LGMD2C. [rarediseases.info.nih.gov]

"Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi : 10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. [en.wikipedia.org]

Early and prompt treatment and early surveillance is much better than waiting for problems to occur and then trying to deal with them. [treat-nmd.eu]

[…] after treatment with rituximab. [ 17 ] Complications and their management [ 2, 8 ] Complications vary, depending on the specific LGMD and on individual variations in the clinical picture. [patient.info]

The symptoms are similar to DMD but often milder, and patients are less likely to have mental retardation and have a better prognosis (30-40 years instead of teens). [lecturio.com]

Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial. [mdfgauteng.org]

Contractures are common, in which case the disease needs to be differentiated from Emery-Dreifuss muscular dystrophy, Bethlem myopathy, and laminin-alpha2 deficiency Prognosis - Limb-girdle muscular dystrophy type 2A This depends upon the type. [checkorphan.org]

Prognosis The prognosis of LGMD varies tremendously. Most people with LGMD, however do not have severe symptoms and most experience a normal lifespan. Cardiac and respiratory difficulties can, however, decrease the lifespan. [encyclopedia.com]

Chronic pain can occur, and pain management should be part of care. [ 19 ] Prognosis This depends on the type of LGMD and whether there is cardiac or respiratory involvement. In general, all types of LGMD progress with time. [patient.info]

During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle [clinicaltrials.gov]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71 :141–5. [ PubMed : 22275259 ] Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dinçer P. [ncbi.nlm.nih.gov]

Etiology Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types. [now.aapmr.org]

licensee BioMed Central Ltd. 2014 Received: 12 May 2014 Accepted: 21 July 2014 Published: 19 August 2014 Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that [bmcneurol.biomedcentral.com]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]

Relevant External Links for DYSF Genetic Association Database (GAD) DYSF Human Genome Epidemiology (HuGE) Navigator DYSF Atlas of Genetics and Cytogenetics in Oncology and Haematology: DYSF No data available for Genatlas for DYSF Gene Analysis of the [genecards.org]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997, 34:973-977 Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al. [ivyunion.org]

A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci. 2016 Jan;43:163-77. Hilbert JE, Ashizawa T, Day JW, et al. Diagnostic odyssey of patients with myotonic dystrophy. [cdc.gov]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Citation on PubMed Mitsuhashi S, Kang PB. [medlineplus.gov]

Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families. [patient.info]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

The pathophysiological role of calpain-3 is not exactly known. Immunohistochemical (IHC) analysis of calpainopathy is still not possible as there is no anti-calpain-3 antibody available that is compatible for IHC on muscle biopsy cryosections. [neurologyindia.com]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

However, all the mutations prevent the body from producing dystrophin, a protein essential for building and repairing muscles. [medicalnewstoday.com]

This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]

Prevention - Limb-girdle muscular dystrophy type 2A Not supplied. [checkorphan.org]

A physiotherapist can recommend stretches to keep joints supple and if necessary special splints (orthoses) to prevent muscle shortening (contractures) which are common in some types of LGMD. [mda.org.au]

The NCARDRS helps scientists look for better ways to prevent and treat MD. You can opt out of the register at any time. Page last reviewed: 20 July 2021 Next review due: 20 July 2024 [nhs.uk]