Symptoma

Muscular Dystrophy-Dystroglycanopathy Type C14

LGMDR19

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

This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in infancy or childhood, with symptoms usually present by the age of 12 years. Progression is rapid, and patients are usually wheelchair-bound in adolescence. [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]

Recommendations and precautions Swallowing difficulties are rarely reported in LGMD2 patients, however if present, they should be assessed by a SALT. [mdfgauteng.org]

  • Difficulty Walking

    Showing of 26 30%-79% of people have these symptoms Achilles tendon contracture Shortening of the achilles tendon Tight achilles tendon [ more ] 0001771 Calf muscle pseudohypertrophy 0003707 Difficulty climbing stairs Difficulty walking up stairs 0003551 [rarediseases.info.nih.gov]

    Outstanding symptoms are difficulty walking, climbing stairs, and frequent falls due to lower limb involvement. Approximately 2-5 years later, weakness is noted in the upper extremities. Some swaying of the back may be noted at this time as well. [wohproject.org]

    walk/run Curvature in the spine Enlarged calf muscles Wheelchair bound Possible cardiac conduction defect Dilated cardiomyopathy **Sarcoglycanopathy (partial deficiency Adolescence/Young adulthood Muscle cramp Calpainopathy 2–40 years (8–15 average) [encyclopedia.com]

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

  • Respiratory Insufficiency

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

    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]

  • Dyspnea

    A year ago, besides her musculoskeletal complaints, she also noted gradual onset of easy fatigability and started complaining of intermittent episodes of exertional dyspnea. She denied any syncope, angina, orthopnea or paroxysmal nocturnal dyspnea. [pubs.sciepub.com]

    The patients noticed the onset of dyspnea during slight exercise at the ages of 27–30. [frontiersin.org]

  • Proximal Muscle Weakness

    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]

    […] 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 by age 50 Contractures * Includes alpha, beta, gamma [encyclopedia.com]

  • Learning Difficulties

    May have learning difficulties. May have eye problems. [patient.info]

    DMD affects boys in early childhood, causing progression of muscle weakness and resulting gait problems, general motor delay, and speech/learning difficulties. [centogene.com]

  • Slurred Speech

    The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties. [rarediseases.org]

  • Abnormal Gait

    These symptoms have progressed to affect his gait, now walks with an abnormal gait (waddlimg) associated with lower back pain. [chs-journal.com]

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]

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]

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]

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 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 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]

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]

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]

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]

Epidemiology LGMD is reported in races and countries throughout the world. Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations. [emedicine.medscape.com]

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]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

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]

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]