Crippling disability Contractures Pneumonia Arrhythmias Cardiac hypertrophy Dysphagia Spinal deformity Fractures Speech impairment Sensorineural hearing loss (Landouzy-Dejerine type) Evidence of genetic transmission Progressive muscle weakness Assessment-Duchenne [quizlet.com]

Choking and recurrent pneumonia may occur. Distal. This group of rare diseases affects adult men and women. It causes weakness and wasting of the distal muscles (those farthest from the center) of the forearms, hands, lower legs, and feet. [webmd.com]

Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Adult Cardiomyopathy, Dilated / complications*, drug therapy Heart Auscultation* Heart Failure / complications* Heart Murmurs* Humans Male Muscular Dystrophies [biomedsearch.com]

SINDROME CARDIOFACCIALE DI CAYLER, DA CERTIFICARE CON CODICE RN1770) PALLISTER-KILLIAN, SINDROME DI (codice RN1590) SINDROME DEL "CRI DU CHAT" (codice RN0670) SINDROME DA DELEZIONE BRACCIO CORTO CROMOSOMA 5 SINDROME WAGR (codice RN1730) TUMORE DI WILMS - ANIRIDIA [retemalattierare.it]

Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle. [checkorphan.org]

Muscle weakness may be associated with soreness in the muscles and joint pain. [rarediseases.org]

Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. [ninds.nih.gov]

Muscle weakness, however, is usually minimal. [msdmanuals.com]

They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. [icdlist.com]

[…] syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan [en.wikipedia.org]

ocular Mitochondrial ocular myopathy Muscular dystrophy Muscular dystrophy, distal Muscular dystrophy, Duchenne Muscular dystrophy, Emery Dreifuss Muscular dystrophy, Erbs Muscular dystrophy, facioscapulohumeral Muscular dystrophy, hereditary progressive [icd9data.com]

Observations on myopathy. Proc R Soc Med. 1922. 16:1. [emedicine.medscape.com]

LGMD2B is caused by mutations of a gene that also causes Miyoshi myopathy a rare muscle disorder characterized by weakness of the distal muscles of the legs and arms. [rarediseases.org]

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. [ncbi.nlm.nih.gov]

At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. [emedicine.medscape.com]

atrophy • proximal weakness • onset of weakness is earlier in childhood • absent deep tendon reflexes and fasciculations • CPK levels are normal • pseudohypertrophy is absent Emery-Dreifuss dystrophy • similar clinical picture • no calf pseudohypertrophy [orthobullets.com]

A heterogeneous group of genetic disorders characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive. [icd10data.com]

Spinal Muscular Atrophy Resources (including Werdnig-Hoffman Disease and Kugelberg-Welander Disease) Note : The following resources have links to numerous online resources on a variety of neuromuscular diagnoses, not just the diagnosis implyed by their [kumc.edu]

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. [books.google.com]

The disability experienced by patients is fairly minimal, although frozen shoulder syndrome may significantly alter function if it is bilateral. Intellectual deterioration and cardiac involvement are rare. [checkorphan.org]

The integration of clinical, radiological and phonocardiographic data with respiratory and postural changes of the murmur have suggested the correct diagnosis that has been further confirmed by the response to nifedipine. [biomedsearch.com]

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. [ncbi.nlm.nih.gov]

Meryon subsequently wrote a comprehensive monograph on MD and even went on to suggest that a sarcolemmal defect was at the root of the disorder. [emedicine.medscape.com]

Practical suggestions for the anesthetic management of a myotonic dystrophy patient. Myotonic dystrophy foundation toolkit. 2013. 47. Muenster T, Mueller C, Forst J, et al. [journals.lww.com]

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