Symptoma

Limb-Girdle Muscular Dystrophy Type 2B

Dysferlinopathy

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]

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]

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

  • 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]

    Some cases of LGMD may have onset during adulthood, mild symptoms, and slow progression; others may have onset during childhood and early severe disability such as difficulty climbing stairs and walking. [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]

    The typical presenting symptom is difficulty climbing stairs. [ped-rheum.biomedcentral.com]

    climbing stairs Difficulty walking up stairs 0003551 Facial palsy Bell's palsy 0010628 Wrist flexion contracture 0001239 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Clumsiness 0002312 [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]

    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]

  • Severe Pain

    Over the following 9 months the patient was readmitted several more times with severe pain. He had no other rash, no high fevers, no eye problems other than an episode of conjunctivitis a month prior to the onset of pain. [ped-rheum.biomedcentral.com]

    Severe pain isn’t a major part of LGMD, although limited mobility sometimes leads to muscle soreness and aching joints. [lgmd2i.com]

  • Lymphadenopathy

    He was afebrile with no mouth ulcers, nail fold abnormalities and no lymphadenopathy. Cardiovascular and respiratory examinations were unremarkable. He had a small right knee effusion with some pain on flexion. [ped-rheum.biomedcentral.com]

  • 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]

  • Aspiration

    Aspiration and culture of synovial fluid was negative and remarkably noted as being almost acellular. Around this time a dark, ecchymosis-like rash around the affected knee developed, which was possibly secondary to warm compresses. [ped-rheum.biomedcentral.com]

    Diet texture modifications and/or physical maneuver may improve swallow and reduce aspiration. Alternative nutritional support such as gastrostomy tubes should be considered if nutritional requirements cannot be met orally. [now.aapmr.org]

  • Ulcer

    He was afebrile with no mouth ulcers, nail fold abnormalities and no lymphadenopathy. Cardiovascular and respiratory examinations were unremarkable. He had a small right knee effusion with some pain on flexion. [ped-rheum.biomedcentral.com]

  • 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]

    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]

  • 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]

  • 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]

  • 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]

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]

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]

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]

Treatment - Limb-girdle muscular dystrophy- type 2B Not supplied. Resources - Limb-girdle muscular dystrophy- type 2B Not supplied. [checkorphan.org]

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]

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]

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]

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]

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]