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966 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Fatty Replacement, Primarily Affects Distal Lower Limbs

  • Limb-Girdle Muscular Dystrophy Type 1E

    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] Functional and morphological ventricular abnormalities, including ventricular wall fibrosis and fatty replacement, were found in 57% of the patients on cardiac magnetic resonance[chs-journal.com]

  • Scapuloperoneal Spinal Muscular Atrophy

    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] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] replacement, increased endomysial fibrosis, marked variability of fiber size, fiber splitting, and many fibers with multiple internal nuclei.[orpha.net]

  • Limb-Girdle Muscular Dystrophy Type 1F

    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] That is followed by consecutive rounds of muscle degeneration and regeneration, leading to fibrosis and fatty replacement of muscle tissue.[news-medical.net]

  • 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: Fatty Replacement
  • Limb-Girdle Muscular Dystrophy Type 1G

    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] replacement of skeletal muscle Increased endomysial connective tissue Hyporeflexia Milia Progressive Waddling gait Myofibrillar myopathy Facial palsy Gowers sign Centrally[mendelian.co]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] DISEASE/DISORDER Definition Muscular dystrophy is defined as muscle disease featuring degeneration and regeneration of muscle with fibrosis and fatty replacement.[now.aapmr.org] […] muscular dystrophy type 1F is an autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs[mendelian.co]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    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] replacement of the myocardium that predisposes individuals to ventricular tachycardia and sudden death.[aetna.com]

  • Muscular Dystrophy

    Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] replacement of muscle tissue.[nichd.nih.gov] The characteristic feature is progressive muscle weakness with fatty replacement of muscle that begins in early childhood 1,2.[radiopaedia.org]

    Missing: Primarily Affects Distal Lower Limbs
  • Muscular Dystrophy-Dystroglycanopathy Type C14

    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] Bilaterally marked fatty replacement of the pelvis muscles, especially the gluteus medius, gluteus maximus, the obturator and iliopsoas muscles.[radiopaedia.org] Functional and morphological ventricular abnormalities, including ventricular wall fibrosis and fatty replacement, were found in 57% of the patients on cardiac magnetic resonance[chs-journal.com]

    Missing: Primarily Affects Distal Lower Limbs
  • Distal Myopathy Type 3

    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] Magnetic resonance imaging (MRI) of calf muscles show typical fatty replacement of the medial heads of the gastrocnemius muscles and soleus muscles and needle EMG reveals[orpha.net] Magnetic resonance imaging (MRI) of calf muscles show typical fatty replacement. EMG reveals 'myopathic' motor units and recruitment patterns.[orpha.net]

    Missing: Primarily Affects Distal Lower Limbs

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