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]

This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in childhood, with symptoms usually present by the age of 10 years. [sema4genomics.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]

• Weakness

  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]

  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]

  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]

• Movement Disorder

  Feb 18 – Feb 19 all-day The Conference will feature sessions on: Pain, Neuro-Ophthalmology, Movement Disorders and a Hands-on Workshop on Visceral Pain & Myofascial Pain Mimicry. [eanpages.org]

  Some subtypes of LGMD1 can have central nervous system involvement with intellectual disability and/or epilepsy and rarely movement disorders. [mdfgauteng.org]

  […] disability Rare genetic medullar disease Rare genetic movement disorder Rare genetic myoclonus Rare genetic neurological disorder Rare genetic parkinsonian disorder Rare genetic syndromic intellectual disability Rare genetic tremor disorder Rare hereditary [se-atlas.de]

  Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. (2013). doi:10.1016/j.ajhg.2013.05.028 Oestergaard, S. T. et al. [mda.org]

  Supplemental assessment tools Electrodiagnostic testing may be helpful to rule out other neuromuscular disorders including neuropathy, metabolic, myotonic, and neuromuscular junction disorders. [now.aapmr.org]

• Swelling

  As in Duchenne and Becker muscular dystrophy, there may be swelling of the gastrocnemius muscles in the legs, although there is no increase in strength, but actually weakness in the enlarged muscle. [geneticsofpregnancy.com]

  Many patients have good muscle strength, leading to good performance at sports or in physically demanding jobs, before onset of symptoms. [ 25 ] May have calf muscle pain and swelling. [patient.info]

  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]

  There was no history of orthopnoea, paroxysmal nocturnal dyspnoea, cough or leg swelling. He had never been diagnosed of any form of cardiac disease. There is no known family history of cardiac disease or premature death. [chs-journal.com]

  […] usually, can range from 2 to 50 years of age no no – a common form of LGMD worldwide – not usually very rapidly progressive – joint contractures may be present 2B dysferlin 15-25 usually (variable) no no – usually slow progression – muscle pain and swelling [mda.org.au]

• Epilepsy

  Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]

  […] and Ragged Red Muscle Fibers MERRF/MELAS overlap disease Myoclonic Epilepsy and Psychomotor Regression Progressive Encephalopathy Epilepsy, Strokes, Optic atrophy, & Cognitive decline Leigh Disease (Maternally Inherited Leigh Syndrome) Kearns-Sayre Syndrome [meduniwien.ac.at]

  Some subtypes of LGMD1 can have central nervous system involvement with intellectual disability and/or epilepsy and rarely movement disorders. [mdfgauteng.org]

  […] cyklisk neutropeni 01.01.2012 A MCS Mastocytose 01.01.2014 A MDI Miller Dieker syndrom 01.01.2000 A MED Multippel Epifysal Dysplasi 01.01.2023 A MEL MELAS syndrom(mitokondrie-encefalopati) 01.01.2010 A MEN Menke's syndrom 01.01.2000 A MER MERRF Myoklon- epilepsi [helsedirektoratet.no]

  Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy [emedicine.medscape.com]

• 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]

• Respiratory Insufficiency

  Pulmonary: Some subtypes are at increased risk for restrictive lung disease leading to respiratory insufficiency due to respiratory muscle weakness; these patients plus those with scoliosis should have routine pulmonary function tests. [now.aapmr.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]

  Diaphragm function may beome impaired resulting in respiratory insufficiency, sometimes severely. Cardiac, extraocular, and velopharyngeal muscles seem to be spared. [wohproject.org]

  Respiratory insufficiency occurs as muscle weakness progresses; NIV may be required in more severely affected patients. CK is moderately elevated. [mdfgauteng.org]

  May have cardiac and respiratory complications - in some cases, the cardiac muscle is more affected than the skeletal muscle; [ 26 ] diaphragmatic involvement may cause respiratory insufficiency while still ambulant. [patient.info]

• Proximal Muscle Weakness

  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]

  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]

  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]

  […] swallowing Caveolinopathy Approx. 5 years Mild to moderate proximal weakness Muscle cramping Enlargement of the calf muscles Some have no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness [encyclopedia.com]

• Arm Weakness

  Shoulder and arm weakness can lead to difficulties in raising the arms over the head and in lifting objects. Some people may complain of muscle pain and cramps, especially in the legs, even before the onset of muscle weakness. [lgmd2i.com]

  35 years Proximal leg and arm weakness Distal weakness Tight Achilles tendon Problems with articulation of speech Nasal sounding speech LGMD1B 4–38 years (50% onset childhood) Proximal lower limb weakness Contractures Irregular heart beat Sudden death [encyclopedia.com]

  Several families have been reported with onset of weakness in their early 20s-60s. [43, 44] Most have proximal weakness, although distal weakness can predominate. Legs are usually affected more than arms. [emedicine.medscape.com]

• Hypertrophy of Calf Muscles

  of certain muscles such as the calf muscle. [rarediseases.org]

• Waddling Gait

  gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Cardiomyopathy Disease of the heart muscle 0001638 Scoliosis Abnormal curving of the spine 0002650 Thoracic scoliosis 0002943 Percent of people who have these symptoms [rarediseases.info.nih.gov]

  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]

  This weakness can result in frequent falls, toe walking or in a particular walking with “waddling gait” (swaying from side to side). This can also cause people to have hyperlordosis (arched back). [lgmd2i.com]

• Spastic Paraplegia

  […] dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 4 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia [se-atlas.de]

See Workup for more detail. Management No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential to preserve muscle function, maximize functional ability, and prolong life expectancy. [emedicine.medscape.com]

• Creatine Phosphokinase Increased

  […] kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine [rarediseases.info.nih.gov]

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

Treatment and management So far there are no specific treatments for LGMD2I, however managing the symptoms of the condition improves a person’s quality of life. Keeping mobile is important for all people affected with muscular dystrophy. [lgmd2i.com]

Treatment: No treatment other than physical therapy is available. Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. [wohproject.org]

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]

Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. Ancillary treatments and support: Respiratory therapy is important when diaphragmatic weakness becomes prominent. [wohproject.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]

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

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]

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]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

[…] dissection Moyamoya disease Autosomal dominant nonsyndromic sensorineural deafness type DFNA Synonym(s): - LGMD2J Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

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]

Pathophysiology Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization. [emedicine.medscape.com]

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]

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]