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324 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Fiber Size Variation, Primarily Affects Distal Lower Limbs

  • Limb-Girdle Muscular Dystrophy Type 1E

    Other nonspecific findings of myopathy such as atrophy of muscle fibers and fiber size variation are present in most patients.[annalsofian.org] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Distal Spinal Muscular Atrophy Type 3

    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] Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info]

    Missing: Fiber Size Variation
  • Limb-Girdle Muscular Dystrophy Type 1G

    Muscle biopsy showed fiber size variation with very discrete perimyseal fibrosis, and several necrotic fibers with rimmed vacuoles.[doi.org] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Muscle biopsy reveal myopathic or dystrophic changes with variation in fiber size, central nuclei, fiber splitting, degeneration of muscle fibers, and an increase in connective[egl-eurofins.com] 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]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Muscle Histopathology shows nonspecific myopathic or dystrophic changes: variation in fiber size, increase in internal nuclei, increase in endomysial connective tissue, necrotic[physio-pedia.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]

  • Distal Myopathy Type 3

    It showed marked fiber size variation ranging from 10 to 120 μm.[karger.com] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us] size variation; Increased connective tissue; Central nuclei Rings in fibers: Outer sarcoplasmic pad; Middle annular myofibrils; Center normal Distal Myopathy: MPD3 9 Autosomal[neuromuscular.wustl.edu]

    Missing: Primarily Affects Distal Lower Limbs
  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    Muscle biopsy showed variation in fiber size, and numerous ragged-red fibers that were COX negative.[pediatricneurologybriefs.com]

    Missing: Facial Muscle Weakness and Progressive Atrophy Primarily Affects Distal Lower Limbs
  • Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[ncbi.nlm.nih.gov] Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] Serum creatine kinase was increased and muscle biopsy showed moderate fiber size variation, internalized nuclei, and absence of emerin staining.[web.archive.org]

    Missing: Primarily Affects Distal Lower Limbs
  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    […] spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy[en.wikipedia.org] weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] […] paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal[en.wikipedia.org]

    Missing: Fiber Size Variation
  • Limb-Girdle Muscular Dystrophy Type 2B

    EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.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] Other nonspecific findings of myopathy such as atrophy of muscle fibers and fiber size variation are present in most patients.[annalsofian.org]

    Missing: Primarily Affects Distal Lower Limbs

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