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11 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Lordosis, Primarily Affects Distal Lower Limbs

  • Distal Spinal Muscular Atrophy Type 3

    -Postural compensations, Trendelenburg, increased lumbar lordosis -Contractures; usually in the PF's if any less common than in DMD -Scoliosis - Degree depends on ambulation[quizlet.com] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io]

  • Scapuloperoneal Spinal Muscular Atrophy

    Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] Scapuloperoneal spinal muscular atrophy: Type 1 (AD form) appears at age 14-26, with weakness, distal leg atrophy, and absent tendon reflexes and sparing of intrinsic foot[emedicine.medscape.com] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Affected individuals may also have an abnormally curved lower back ( lordosis ) or a spine that curves to the side ( scoliosis ).[familydiagnosis.com] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).[lgmd-info.org] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Affected individuals may also have an abnormally curved lower back ( lordosis ) or a spine that curves to the side ( scoliosis ).[familydiagnosis.com] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] […] abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis[rarediseases.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).[lgmd-info.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org]

  • Spinal Muscular Atrophy Type 2

    His lumbar lordosis associated with anterior tilted pelvis and his problems with head balance due to weak neck musculature caused compensatory behavior like a retracted neck[ncbi.nlm.nih.gov] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    -Postural compensations, Trendelenburg, increased lumbar lordosis -Contractures; usually in the PF's if any less common than in DMD -Scoliosis - Degree depends on ambulation[quizlet.com] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io]

  • Autosomal Dominant Benign Spinal Muscular Atrophy

    Examination shows pes cavus and a lumbar lordosis; he has wasting and weakness of the intrinsic hand muscles and his legs below the knees, absent ankle jerks and normal sensation[academic.oup.com] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io]

  • X-Linked Scapuloperoneal Myopathy

    Aim to avoid surgery for as long as possible to allow for longitudinal spinal growth Need to exercise great care with use of braces Lordosis excess lumbar lordosis often[flinders.edu.au] Signs: there is ptosis, facial weakness, atrophy of the sternocieidomastoid muscles, cataracts, and decreased intelligence.[academic.sun.ac.za] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

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