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12 Possible Causes for Congenital Joint Contractures - Knee Ankle Hip Elbow, Congestive Heart Failure

  • Congenital Muscular Dystrophy

    Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] , lung, and various body tissues (congestive heart failure).[rarediseases.org] Congestive Heart failure Hypoglycemia – Low blood sugar may lead to floppiness of the muscles Myasthenia gravis – is an autoimmune disease that disrupts signals between nerves[news-medical.net]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] An endoscopic study of upper-GI mucosal changes in patients with congestive heart failure. Gastrointest Endosc 2004 ; 60 : 887 – 893. 10.[cambridge.org] heart failure Failure to thrive Short stature Mitochondrial depletion Difficulty walking Polymicrogyria Cerebellar atrophy Optic atrophy Torticollis Respiratory insufficiency[mendelian.co]

  • Limb-Girdle Muscular Dystrophy

    Distribution Flexion: IP joints medial 4 fingers, wrists, elbows, ankles Proximal: Pectorals, Knees, Shoulders, Hips Truncal Congenital: Torticollis Disease progression:[neuromuscular.wustl.edu] Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C A, p.Leu276Ile) who developed severe congestive heart failure that required cardiac transplantation[ncbi.nlm.nih.gov] Restrictive lung disease correlates with weakness & contractures Spine Dorsiflexion contractures at ankles in COL6A2 (G250S) mutation Course After birth: Often spontaneously[neuromuscular.wustl.edu]

  • Mixed Connective Tissue Disease

    It is akin to Marfan syndrome but with contractures of hip, knee, elbows and ankle joint and crumpled ear.[en.wikipedia.org] heart failure and/or pulmonary edema, respectively, as consequences of the rapid increase in blood pressure.[sjkdt.org] The hepatomegaly with chronic passive congestion was the consequence of the right sided heart failure.[path.upmc.edu]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Congestive Heart failure Hypoglycemia – Low blood sugar may lead to floppiness of the muscles Myasthenia gravis – is an autoimmune disease that disrupts signals between nerves[news-medical.net] , lung, and various body tissues (congestive heart failure).[rarediseases.org]

  • Degenerative Disorder

    Myopathic EDS (mEDS) characterized by congenital muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal joint contractures (joints of the knee, hip and[web.archive.org] Extraneurologic signs include pes cavus, kyphoscoliosis, and cardiomyopathy, which may result in terminal congestive heart failure.[dartmouth.edu] elbow); and hypermobility of distal joints (joints of the ankles, wrists, feet and hands).[web.archive.org]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] , lung, and various body tissues (congestive heart failure).[rarediseases.org] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au]

  • Generalized Connective Tissue Syndrome

    It is akin to Marfan syndrome but with contractures of hip, knee, elbows and ankle joint and crumpled ear.[en.wikipedia.org] heart failure* Pulmonary hypertension* Pulmonary Spontaneous pneumothorax* Lung-protective ventilation strategies Emphysema* Other Recurrent hernias Striae atrophicae Organ[bjaed.oxfordjournals.org] Congenital contractural arachnodactyly – Also known as Beals syndrome.[en.wikipedia.org]

  • Ehlers-Danlos Syndrome Type Beasley-Cohen

    […] muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal joint contractures (joints of the knee, hip and elbow); and hypermobility of distal joints (joints[en.scio.pw] heart failure Vomiting Petechiae Lissencephaly Autism Cerebral cortical atrophy Hypertrophic cardiomyopathy Retinopathy Hepatosplenomegaly Muscular hypotonia of the trunk[mendelian.co] […] of the ankles, wrists, feet and hands). [38] Periodontal EDS (pEDS) characterized by severe and intractable periodontitis of early onset (childhood or adolescence), lack[en.scio.pw]

  • Stevenson Carey Syndrome

    The joints of the hands, wrists, feet, and ankles are most commonly involved although more proximal joints ( e.g ., elbow, shoulder, knee, and hip) also can be affected.[ojrd.biomedcentral.com] heart failure and Cerebellar atrophy, related diseases and genetic alterations Macrocephaly and Corneal opacity, related diseases and genetic alterations Low-set ears and[mendelian.co] Limbs In an isolated case, the presence of congenital contractures is mandatory in order to entertain the diagnosis of SHS.[ojrd.biomedcentral.com]

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