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16 Possible Causes for Distal Joint Contractures - Lower Limbs

  • Distal Spinal Muscular Atrophy Type 3

    Most patients present show symptoms at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly distal lower limb muscle involvement[slideshare.net] Congenital SMA with arthrogryposis Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder.[slideshare.net]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Most patients present show symptoms at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly distal lower limb muscle involvement[slideshare.net] Congenital SMA with arthrogryposis Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder.[slideshare.net]

  • Rigid Spine Syndrome

    Moderate form with hand involvement ( The characteristic feature is distal weakness of the upper limbs with joint hyperlaxity. Distal lower limbs are relatively normal.[ncbi.nlm.nih.gov] […] of mitochondrial metabolism Slender finger Recurrent lower respiratory tract infections Follicular hyperkeratosis Limb-girdle muscular dystrophy Pes valgus Long toe Abnormality[mendelian.co] Antenatal form with arthrogryposis multiplex congenita (AMC) ( The characteristic feature is generalized joint contractures at birth as a result of poor fetal movement.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    Individuals with diastrophic dwarfism have joint contractures and scoliosis from birth or early infancy.[appliedradiology.com] Spondyloepiphyseal dysplasia congenita, on the other hand, is typified by hip joints that are affected disproportionately in relation to the more distal portion of the lower[appliedradiology.com] In fact, the periphery of the limbs is closer to normal as compared with PSACH.[appliedradiology.com]

  • Congenital Elbow Dislocation

    […] of lower limb joints Congenital malposition of radius Congenital thickening of clavicle Contracture of joint of multiple sites Deformity of ulna Digitotalar dysmorphism Distal[icdlist.com] […] dislocation of elbow Congenital dislocation of head of left radius Congenital dislocation of radial head Congenital dislocation of shoulder Congenital generalized flexion contractures[icdlist.com]

  • Syndromic Microphthalmia Type 10

    , lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints.[mendelian.co] […] muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal[mendelian.co]

  • Autosomal Dominant Benign Spinal Muscular Atrophy

    , lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints.[orpha.net] […] atrophy Disease definition A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal[orpha.net] Affected individuals often have shorter lower limbs relative to the trunk and upper limbs.[en.wikipedia.org]

  • Mesomelic Dysplasia Type Kantaputra

    The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints.[malacards.org] The hands show progressive flexion contractures of the proximal interphalangeal joints.[rarediseases.info.nih.gov] The distal humerus has a dumbbell shape, the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints.[ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia Type Byers

    Axonal loss Difficulty running Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Axial muscle weakness Limb joint contracture Toe walking[mendelian.co] […] incontinence Bilateral sensorineural hearing impairment Seizures Growth delay Disproportionate tall stature Degeneration of anterior horn cells Brisk reflexes Overlapping toe Hip contracture[mendelian.co]

  • Ray-Peterson-Scott Syndrome

    The frequency of joint involvement increases from distal to proximal but no synovial joints is exempt from contracture (Fig. 1).[bhj.org.in] contractures Fatigable weakness Absent speech Weak cry Asthenia Spasticity Hyperreflexia Frequent falls High, narrow palate Distal lower limb amyotrophy Respiratory tract[mendelian.co] In a study of 84 children by Hahn et al [2], all 4 limbs were affected in approximately 70% of children, only lower limbs in about 20% and only upper limbs in 10%.[bhj.org.in]

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