DISTROFIA MUSCULAR DE ERB PDF

Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named . FSHD, in both familial and de novo cases, is found to be linked to a recombination event that reduces the size of 4q EcoR1 fragment to < 28 kb (50– kb. Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular. Distrofia Muscular de Duchenne (DMD) Guillaume Benjamin Amand Wilhelm Heinrich Erb () DISTROFIA MUSCULAR DE.

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Limb-girdle muscular dystrophy LGMD or Erb’s muscular dystrophy [4] is a genetically and clinically heterogeneous group of rare muscular dystrophies.

distrofia muscular de Erb – English Translation – Word Magic Spanish-English Dictionary

LGMD has an autosomal pattern of inheritance and currently has no known cure or treatment. The symptoms of an individual with Limb-girdle Muscular Dystrophy LGMD generally has great difficulty walking, going both up and down stairs and raising from a chair.

The inability to bend over or squat down is also present. Because of these difficulties, falling can occur on a regular basis.

Lifting certain objects, as well as difficulty extending your arms out or above your head, varies from difficult to impossible depending on the severity. The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.

The muscle weakness is generally symmetric, proximalmuacular slowly progressive. In most cases, pain is not present with LGMD, and mental function is not affected. LGMD can begin in childhood, adolescence, young adulthood or even later, the age of onset is usually between 10 and Both genders are affected equally, when limb-girdle reb dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

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There is no sensory neuropathy or autonomic or visceral dysfunction at presentation. In terms of the genetics LGMD is an inherited disorder, though it may be inherited as a dominant or recessive genetic defect. Distrofiq result of the defect is that the muscles cannot properly form certain proteins needed for normal muscle function.

Facioscapulohumeral muscular dystrophy – Wikipedia

Several different proteins can be distrofi, and the specific protein that is absent or defective identifies the specific type of muscular dystrophy. The sarcoglycanopathies could be possibly amenable to gene therapy. The diagnosis of limb-girdle muscular dystrophy can be done via muscle biopsywhich will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a patient has.

Immunohistochemical dystrophin tests can indicate a decrease in dystrophin detected in sarcoglycanopathies. The Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies indicates that individuals suspected of having the inherited disorder should have genetic testing.

There are few studies corroborating the effectiveness of exercise for limb-girdle muscular dystrophy. However studies have shown that exercise can, in fact, damage muscles permanently due to intense muscle contraction. Calipers may be used to maintain mobility and quality of life.

Careful attention to lung and heart health is required, corticosteroids in LGMD 2C-F individuals, shows some improvement [9] Additionally individuals can follow management that follows: In terms of the prognosis of limb-girdle muscular dystrophy in its mildest form, affected individuals have near-normal muscle strength and function.

LGMD isn’t typically a fatal disease, though it may eventually weaken the heart and respiratory muscles, leading to illness or death due to secondary disorders. The frequency of limb-girdle muscular dystrophy ranges from 1 in 14, in some instances 1 in[5] [7]. There is a variety of research under way targeted at various forms of limb-girdle muscular dystrophy. Among the methods thought to hold promise for treatment include gene transfer therapy, [12] which works by inserting in cells of defective genes with a healthy gene.

According to a review by Bengtsson et al.

Limb-girdle muscular dystrophies has many different types which are due to different gene mutations. Future treatment could be had by gene therapy through recombinant adeno -associated vectors.

Conversely, according to a review by Straub, et al. The review goes on to state that animal models for LGMD2 have been used to analyse therapeutic medications. Also adding that while prednisone has been used and has had positive effects on affected LGMD2 individuals there is still no evidence of its effectiveness in trials that are placebo-controlled [15].

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Long QT syndrome 4. From Wikipedia, the free encyclopedia. PVC a type of palpitation recording. An audio clip recording of a PVC symptom, made with a cardiac event monitor. Pseudohypertrophy [8] Muscle hypertrophy [9] Respiratory muscle problems [9] Low back discomfort [8] Palpitation [8] Distal muscle problems [9] Facial distrrofia weakness [8] Weak shoulder muscle [8].

Diagnosis and treatment of limb-girdle and distal dystrophies”. Companion to Clinical Neurology. Limb-Girdle Muscular Dystrophy Overview. University of Washington, Seattle. Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal most. RAB27A Griscelli syndrome 2. MYO5A Griscelli syndrome 1. SPG4 Hereditary spastic paraplegia 4. KIF5A Hereditary spastic paraplegia DYSF Distal muscular dystrophy.

See also vesicular transport proteins. Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5. Hypertrophic cardiomyopathy 3 Nemaline myopathy 1. Keratinopathy keratosiskeratodermahyperkeratosis: Charcot—Marie—Tooth disease 2A Hereditary spastic paraplegia Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3.

Tauopathy Cavernous venous malformation. Spinocerebellar ataxia er Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin: Long QT syndrome 4 Hereditary spherocytosis 1. Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin: Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin: Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome: Cell membrane protein disorders other than Cell surface receptorenzymesand cytoskeleton.

Surfactant metabolism dysfunction 1, 2. DSG1 Striate palmoplantar keratoderma 1. See also other muscupar membrane proteins.

Limb-girdle muscular dystrophy

Retrieved from ” https: Views Read Edit View history. This page was last edited on 19 Decemberat By using this site, you agree to the Terms of Use and Privacy Policy. Immunohistochemical dystrophin tests [2]. Occupational, speech and physical therapy [3].

Problems playing this file? LGMD with a mutation in this gene is sometimes called dysferlinopathy. D ICD –