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Limb-Girdle Muscular Dystrophy Type 2Q

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q


Presentation

  • 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]
  • Recommendations and precautions Swallowing difficulties are rarely reported in LGMD2 patients, however if present, they should be assessed by a SALT.[mdfgauteng.org]
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]
  • 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]
  • DM1 should be suspected in newborns who present with one or any of the following: Hypotonia Facial muscle weakness Generalized weakness Positional malformations including club foot Respiratory insufficiency.[centogene.com]
  • LGMD1C is caused by mutations in the caveolin 3 gene and is characterised by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness; however distal weakness can also occur.[mdfgauteng.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]
Amyloidosis
  • (PMID: 19221801) Pramono ZA … Yee WC (Human genetics 2009) 3 4 22 60 Dysferlin-deficient muscular dystrophy features amyloidosis.[genecards.org]
Vietnamese
  • In addition to proper diagnosis of our patient, our results identified onecarrierin100 control Vietnamese samples ( Figure 2 ), indicating that c.424C T is a frequent mutation in the Vietnamese population.[omicsonline.org]
Pathologist
  • PMID: 23143600 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Respiratory Distress
  • distress and dysphagia (MEGF10) DISTAL MYOPATHIES Distal myopathy with decreased caveolin 3 (CAV3) Miyoshi muscular myopathy (DSYF) Miyoshi muscular myopathy 3 (ANO5) Distal myopathy, with anterior tibial onset (DSYF) Distal myopathy 1, Laing (MYH7)[meduniwien.ac.at]
  • distress, and dysphagia AR 19 18 MYH7 Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM) AD 285 950 MYOT Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid body AD[blueprintgenetics.com]
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]
  • Muscle weakness may be associated with soreness in the muscles and joint pain.[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]
  • A milder form of disease occurs in very few female carriers, where mild form of muscle weakness develops in 2.5-20% of affected female carriers 1.[centogene.com]
  • Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.[icd10data.com]
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]
  • LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal.[rarediseases.org]
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • Polymyositis This is more common in older individuals and is associated with a progressive and symmetrical proximal muscle weakness. On investigation, these patients have an increased creatinine kinase and are positive for anti-Jo-1 antibodies.[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]
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]
  • LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal.[rarediseases.org]
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • Polymyositis This is more common in older individuals and is associated with a progressive and symmetrical proximal muscle weakness. On investigation, these patients have an increased creatinine kinase and are positive for anti-Jo-1 antibodies.[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]
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]
  • 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]
Paresis
  • Charcot-Marie-Tooth neuropathy, X-linked (GJB1) Charcot-Marie-Tooth disease, type 4A (GDAP1) Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1) Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1) Charcot-Marie-Tooth disease, axonal, with vocal cord paresis[meduniwien.ac.at]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • 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 purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD.[clinicaltrials.gov]
  • Treatment of Polymyositis/dermatomyositis Can be responsive to steroid treatment. A high dose of corticosteroids can be given; then decrease the dose until a working maintenance dose is given.[lecturio.com]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
  • 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 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. Thompson R, Straub V.[now.aapmr.org]
  • Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997; 34 :973–7. [ PMC free article : PMC1051145 ] [ PubMed : 9429136 ] Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

Prevention

  • 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]
  • Carriers do not have any symptoms since they have one unchanged gene, which produces enough normal protein to prevent the symptoms of LGMD.[encyclopedia.com]
  • 0003557 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Macroglossia Abnormally large tongue Increased size of tongue Large tongue Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent[rarediseases.info.nih.gov]

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