Presentation
The typical presenting symptom is difficulty climbing stairs. [ped-rheum.biomedcentral.com]
However, LGMD2B is rarely seen in clinical cases and may initially present as weakness of proximalpelvis muscles and muscles in the posterior compartments of thighs,which will then cause difficulty in running and limping during walking. [ncbi.nlm.nih.gov]
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, usually in late adolescence or early adulthood. Progression is slow and weakness does not always extend to the upper limbs. [sema4genomics.com]
There are different patterns of expression of dysferlin related to the number of mutation present in the gene. In patients with two mutations, levels are between 0 and 20%. [oatd.org]
Entire Body System
- 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]
Examples of this include trouble standing from a sitting position without using the arms, or difficulty climbing stairs. The weakness starts in childhood to young adulthood. [medlineplus.gov]
Showing of 12 | Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Elevated serum creatine kinase Elevated [rarediseases.info.nih.gov]
- Difficulty Running
Other characteristics include inability to walk on the toes and difficulty running or walking. Miyoshi myopathy is characterized by muscle weakness and atrophy in young adults, most marked in the distal parts of the legs. [egl-eurofins.com]
The muscle weakness can cause an inability to tiptoe and difficulty walking and running. [rarediseases.info.nih.gov]
In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. [ghr.nlm.nih.gov]
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]
- Ecchymosis
Around this time a dark, ecchymosis-like rash around the affected knee developed, which was possibly secondary to warm compresses. The general paediatric team prescribed intramuscular Depo-Medrone 80mg, which only provided 5–6 days of relief. [ped-rheum.biomedcentral.com]
Musculoskeletal
- Proximal Muscle Weakness
She began to experience proximal muscle weakness of both lower limbs without obvious inducement, which markedly increased when she climbed the stairs or stood up after squatting. [ncbi.nlm.nih.gov]
In 1884, Erb characterized a juvenile form of proximal muscle weakness. [checkorphan.org]
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]
- Joint Effusion
Knee MRI scan showed a small joint effusion and no synovial thickening. Aspiration and culture of synovial fluid was negative and remarkably noted as being almost acellular. [ped-rheum.biomedcentral.com]
- Knee Effusion
He had a small right knee effusion with some pain on flexion. The knee was held in a few degrees of flexion, although it was possible to get the knee to neutral. One month later, he was admitted to hospital following worsening of his knee pain. [ped-rheum.biomedcentral.com]
- Leg Pain
LGMD type 2I, dystrophinopathies and facioscapulohumeral muscular dystrophy) can also present with leg pain, this is usually mild and following exertion. [ped-rheum.biomedcentral.com]
- Knee Pain
Over several months his knee pain worsened and limited walking. [ped-rheum.biomedcentral.com]
Workup
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
There were symptomatic treatments such as coenzyme Q10. After symptomatic treatments, the patient's symptoms were obviously relieved, and the CK level decreased. [ncbi.nlm.nih.gov]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
While there are no treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease complications. [1] Last updated: 12/26/2017 Limb-girdle muscular dystrophy type 2B (LGMD2B) causes muscle weakness and wasting [rarediseases.info.nih.gov]
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]
Prognosis
Prognosis - Limb-girdle muscular dystrophy- type 2B Not supplied. Treatment - Limb-girdle muscular dystrophy- type 2B Not supplied. Resources - Limb-girdle muscular dystrophy- type 2B Not supplied. [checkorphan.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]
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]
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 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]
Epidemiology
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]
Classification and epidemiology All form of LGMD are inherited autosomally and the classification is alphanumeric with assignation of number ‘1’ or ‘2’ depending on whether they are inherited dominantly or recessively. [content.iospress.com]
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
^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]
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]
Prevention
Prevention - Limb-girdle muscular dystrophy- type 2B Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2B Not supplied. Prognosis - Limb-girdle muscular dystrophy- type 2B Not supplied. [checkorphan.org]
Many patients utilize physical therapy to prevent the worsening of contractures. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]
Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm. [medlineplus.gov]
This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]
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]