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343 Possible Causes for Congenital Joint Contractures - Knee Ankle Hip Elbow, Diffuse Hypotonia

  • Congenital Muscular Dystrophy

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] 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] […] muscular dystrophy type 1 Clinical Findings in the Disorders Described in Table 1 Laminin alpha-2 deficiency ( LAMA2 -related CMD [MDC1A]) is characterized by congenital hypotonia[ncbi.nlm.nih.gov]

  • Arthrogryposis due to Muscular Dystrophy

    Physical examination disclosed generalized hypotonia, diffuse amyotrophy, absent muscle stretch reflexes and muscle weakness (proximal exceeding distal).[scilit.net] 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] Onset is at birth with moderate-to-severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years of age.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy

    Early childhood ( 2 years): Common with Weakness or Contractures Adult: As late as 6th decade Motor: Hypotonia Joints: Laxity or Contractures Clinical Weakness Diffuse; Proximal[neuromuscular.wustl.edu] Distribution Flexion: IP joints medial 4 fingers, wrists, elbows, ankles Proximal: Pectorals, Knees, Shoulders, Hips Truncal Congenital: Torticollis Disease progression:[neuromuscular.wustl.edu] : Especially axial Ptosis Muscle Atrophy Weakness: Distal or Diffuse Gait: Abnormal in most Tendon reflexes: Normal or Reduced Skeletal Scoliosis short stature Face: Mild[neuromuscular.wustl.edu]

  • Degenerative Disorder

    MRI shows diffuse hypomyelination, i.e., homogeneous white matter mild hypo- or isointensity relative to gray matter structures on T1-weighted images and mild hyperintensity[doi.org] 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] PMD is characterized by onset in the first months of life of nystagmus, developmental delay, hypotonia, ataxia and spasticity, feeding and breathing issues, involuntary movements[doi.org]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] 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] 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]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] 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] […] muscular dystrophy type 1 Clinical Findings in the Disorders Described in Table 1 Laminin alpha-2 deficiency ( LAMA2 -related CMD [MDC1A]) is characterized by congenital hypotonia[ncbi.nlm.nih.gov]

  • Growth Failure

    The child presented a worsening of anorexia and several crises of hypotonia. MRI brain scan showed a diffuse cerebral glioma.[aclr.com.es] An urgent MRI brain scan showed diffuse and bihemispheric leukoencephalopathy particularly evident in the pontomesencefalic, the temporal and frontal-parietal periventricular[aclr.com.es] Upon neurological examination, the child showed psychomotor delay, ataxia, nystagmus, symmetrical hypotonia with hyperreflexia, in addition to the cafè-au-lait spots, compatible[aclr.com.es]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Neonatal Adrenoleukodystrophy

    It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface[orpha.net] It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat[rarediseases.info.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Epilepsy

    hypotonia, mild ataxia with wide based gait, mild tremor general hypotonia general hypotonia axial hypotonia, secondary microcephaly axial hypotonia Development at last follow[ncbi.nlm.nih.gov] […] poly)spike waves; paroxysmal fast activity slow background, diffusemultifocal sharp waves and sharp waves-slow waves; paroxysmal fast activity Neurological examination mild diffuse[ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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] Congenital contractural arachnodactyly – Also known as Beals syndrome.[en.wikipedia.org]

    Missing: Diffuse Hypotonia

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