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708 Possible Causes for Dystrophic Changes, Facial Muscle Weakness and Progressive Atrophy, Primarily Affects Distal Lower Limbs

  • Limb-Girdle Muscular Dystrophy Type 1E

    Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] There were also amorphous necrotic muscle fibres with areas of regeneration (dystrophic changes).[chs-journal.com]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013).[ncbi.nlm.nih.gov] 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] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.[uniprot.org]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] Serum creatine kinase (CK) levels in individuals with LGMD are usually elevated, and muscle biopsy reveals dystrophic changes.[egl-eurofins.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Muscle biopsy shows mild dystrophic changes. Defects in LMNA are the cause of Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588].[abcam.com] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986 ).[mendelian.co]

  • 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: Dystrophic Changes
  • Limb-Girdle Muscular Dystrophy Type 2B

    All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT[ncbi.nlm.nih.gov] 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] Serum creatine kinase (CK) levels in individuals with LGMD are usually elevated, and muscle biopsy reveals dystrophic changes.[egl-eurofins.com]

    Missing: Primarily Affects Distal Lower Limbs
  • 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] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] 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]

  • Limb-Girdle Muscular Dystrophy Type 2A

    Muscle biopsy revealed a dystrophic change and many lobulated fibers on NADH-tetrazolium reductase staining.[ncbi.nlm.nih.gov] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy.[ncbi.nlm.nih.gov]

    Missing: Primarily Affects Distal Lower Limbs
  • Limb-Girdle Muscular Dystrophy Type 2E

    Muscle biopsies can confirm the diagnosis with dystrophic changes early and fat cell infiltration in more advanced disease.[wohproject.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] There were also amorphous necrotic muscle fibres with areas of regeneration (dystrophic changes).[chs-journal.com]

    Missing: Primarily Affects Distal Lower Limbs
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT[neurology.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] Muscle biopsy showed dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan.[link.springer.com]

    Missing: Primarily Affects Distal Lower Limbs

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