Cardiomyopathy & Myopathy & Progressive Contractures: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Cardiomyopathy, Myopathy, Progressive Contractures,

Negated

None

Unsure

None

Possible Causes

Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy [ncbi.nlm.nih.gov]

Abstract Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder resulting in progressive muscle weakness, contractures, and cardiomyopathy. [ncbi.nlm.nih.gov]

METHODS: Forty-one patients with EDMD-related myopathy were enrolled. [ncbi.nlm.nih.gov]

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Muscular Dystrophy

A pilot study was conducted to assess the safety and efficacy of tranilast in muscular dystrophy patients with cardiomyopathy. [ncbi.nlm.nih.gov]

In DMD and some cases of BMD there is progressive weakness, contractures and the inability to walk. [healthengine.com.au]

Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM. [neuropathology-web.org]

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Emery-Dreifuss Muscular Dystrophy Type 2

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation. [annalsofian.org]

contractures-limb-girdle weakness-muscle dystrophy syndrome Coenzyme Q10 deficiency Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles [se-atlas.de]

RESULTS: The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. [pesquisa.bvsalud.org]

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Duchenne Muscular Dystrophy

She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function [ncbi.nlm.nih.gov]

Surgical Treatment Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. [posna.org]

It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies. [ncbi.nlm.nih.gov]

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Emery-Dreifuss Muscular Dystrophy Type 1

Abstract The original Virginia family with X‐linked muscular dystrophy with early contractures and cardiomyopathy (Emery‐Dreifuss type) has been reinvestigated 25 years later [doi.org]

Confusion with the common idiopathic toe walking inhibits therapy and prophylaxis of progressive contractures and skeleton deformities. [zehenspitzengang.de]

Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM. [neuropathology-web.org]

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Limb-Girdle Muscular Dystrophy

This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy. [ncbi.nlm.nih.gov]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy. [ncbi.nlm.nih.gov]

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Limb-Girdle Muscular Dystrophy Type 2C

Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle ( cardiomyopathy ), and respiratory abnormalities. [rarediseases.info.nih.gov]

Patients may also experience cardiomyopathy and lung disease, and may develop scoliosis and joint contractures as the disease progresses. [sema4genomics.com]

Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 1997;336:618–24. PubMed CrossRef Google Scholar 4. Merlini L, Kaplan JC, Navarro C, et al. [link.springer.com]

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Limb-Girdle Muscular Dystrophy Type 2E

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Limb-Girdle Muscular Dystrophy Type 2F

Keywords Delta-sarcoglycan Severe LGMD phenotype Cardiomyopathy References 1. Nigro V, Moreira ES, Piluso G, et al. [link.springer.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Nemaline Myopathy Type 5

ACTA1 childhood onset dilated cardiomyopathy nemaline myopathy neuromuscular diseases school-aged child Abbreviations: DCM — dilated cardiomyopathy HCM — hypertrophic cardiomyopathy [pediatrics.aappublications.org]

contractures. [institut-myologie.org]

Term Name: nemaline myopathy 5 Search Ontology: Synonyms: Amish nemaline myopathy ANM NEM5 nemaline myopathy 5, Amish type Definition: A nemaline myopathy that has_material_basis_in [zfin.org]

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Becker Muscular Dystrophy

Patients with Becker muscular dystrophy-related cardiomyopathy typically survive into their 30s, when they succumb to complications of cardiomyopathy or receive heart transplants [ncbi.nlm.nih.gov]

Progressive scoliosis and contracture formation may require surgical intervention. [emedicine.medscape.com]

In a boy with myopathy and an increase of muscle fibres with central nuclei we detected a heterozygous 387G-- T nucleotide transversion in the MYF6 gene (MIM*159991). [ncbi.nlm.nih.gov]

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Erb Muscular Dystrophy

[…] insufficiency MedLine Citation: PMID: 6706057 Owner: NLM Status: MEDLINE Abstract/OtherAbstract: We describe a case of Erb's limb girdle muscular dystrophy with congestive cardiomyopathy [biomedsearch.com]

progression. [checkorphan.org]

4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG [en.wikipedia.org]

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Arthrogryposis due to Muscular Dystrophy

[…] muscular dystrophy, Reducing bod myopathy XL 26 62 FKBP10 Bruck syndrome 1, Osteogenesis imperfecta, type XI AR 20 44 FKTN Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy [blueprintgenetics.com]

Genetic Testing 12(1): 53-56, 2008 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. [m.eurekamag.com]

Rods may be seen in many other diseases including inflammatory myopathies, muscular dystrophies, mitochondrial myopathies, HIV myopathy, chronic renal failure, spinal muscular [emedicine.medscape.com]

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Muscular Dystrophy-Dystroglycanopathy Type C3

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Congenital Muscular Dystrophy

cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively. [ncbi.nlm.nih.gov]

We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures [ncbi.nlm.nih.gov]

[…] first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. [ncbi.nlm.nih.gov]

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Limb-Girdle Muscular Dystrophy Type 2J

Disease Type of connection Familial isolated dilated cardiomyopathy Autosomal recessive centronuclear myopathy Early-onset myopathy with fatal cardiomyopathy Familial isolated [csbg.cnb.csic.es]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

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Muscular Dystrophy-Dystroglycanopathy Type C5

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

– not usually very rapidly progressive – joint contractures may be present 2B dysferlin 15-25 usually (variable) no no – usually slow progression – muscle pain and swelling [mda.org.au]

Elsevier Health Sciences, ٣١‏/٠٧‏/٢٠١٤ - 305 من الصفحات Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies [books.google.com]

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Limb-Girdle Muscular Dystrophy Type 2Q

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Muscular Dystrophy-Dystroglycanopathy Type C9

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Muscular Dystrophy-Dystroglycanopathy Type C4

Disease Type of connection Congenital muscular dystrophy without intellectual disability Familial isolated dilated cardiomyopathy Muscle-eye-brain disease Walker-Warburg syndrome [csbg.cnb.csic.es]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy [pentacorelab.hu]

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Glycogen Storage Disease Type 2

lysosomal disease with hypertrophic cardiomyopathy, glycogen storage disease with hypertrophic cardiomyopathy, lysosomal glycogen storage disease Prende il nome da Johannes [commons.wikimedia.org]

Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery. [dx.doi.org]

He was diagnosed with GSD III at the age of 7 months due to motor retardation, myopathy, and hepatomegaly. [ojrd.biomedcentral.com]

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Limb-Girdle Muscular Dystrophy Type 1E

Inherited cardiomyopathies. [ncbi.nlm.nih.gov]

– not usually very rapidly progressive – joint contractures may be present 2B dysferlin 15-25 usually (variable) no no – usually slow progression – muscle pain and swelling [mda.org.au]

Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions. [clevelandclinicmeded.com]

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Facioscapulohumeral Muscular Dystrophy

This is the first report of an FSHD patient with biopsy-proven cardiomyopathy. [ncbi.nlm.nih.gov]

In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, early disabling contractures, progressive [ncbi.nlm.nih.gov]

OBJECTIVES: To report cases of chronic autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (anti-SRP myopathy) initially misdiagnosed as muscular [ncbi.nlm.nih.gov]

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Muscular Dystrophy-Dystroglycanopathy Type C14

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

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Systemic Scleroderma

rare rheumatologic disease, lung disease, autoimmune cardiomyopathy Authority control Q5340515 Reasonator Scholia Statistics Subcategories This category has the following [commons.wikimedia.org]

With disease progression, ulcerations over joints and flexion contractures of the fingers, wrists, and elbows may occur. [aafp.org]

MRI findings were compatible with myopathy or myositis in 14 (78 %) patients, tenosynovitis in 11 (61 %) patients and enthesitis in 10 (56 %) patients. [ncbi.nlm.nih.gov]

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Dermatomyositis

[…] due to dermatomyositis Dilated cardiomyopathy secondary to dermatomyositis Disorder of respiratory system due to dermatomyositis Juvenile dermatomyositis Juvenile dermatomyositis [icd9data.com]

the muscles begin to waste away (atrophy) and permanently shorten (contracture); children with juvenile dermatomyositis may experience a more rapid onset. [myositis.org.au]

Classification of the Autoimmune Myopathies. View Table Favorite Table Download (.pdf) Table 27–1. Classification of the Autoimmune Myopathies. [accessmedicine.mhmedical.com]

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Limb-Girdle Muscular Dystrophy Type 1F

Inherited cardiomyopathies. [ncbi.nlm.nih.gov]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions. [clevelandclinicmeded.com]

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Myotonic Dystrophy

Moreover, morphological and functional changes indicative of subclinical cardiomyopathy have been demonstrated by means of cardiac magnetic resonance imaging (CMRI) and spectroscopy [ncbi.nlm.nih.gov]

Shortening of muscles or tendons around joints (contractures). Contractures can further limit mobility. Breathing problems. [mayoclinic.org]

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. [ncbi.nlm.nih.gov]

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Limb-Girdle Muscular Dystrophy Type 2L

LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ]. [pubs.sciepub.com]

There is variable rate of progression. May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

Keywords Anoctamin-5 Limb-girdle muscular dystrophy Distal myopathy References 1. Bolduc V, Marlow G, Boycott KM, et al. [link.springer.com]

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Muscular Dystrophy-Dystroglycanopathy Type C7

This form is also known as dilated cardiomyopathy type IF (CMDIF). [archive.org]

contractures-limb-girdle weakness-muscle dystrophy syndrome Coenzyme Q10 deficiency Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles [se-atlas.de]

[…] joint contractures-dysmorphism syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short [se-atlas.de]

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