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70 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Hyporeflexia, Muscular Atrophy

  • Muscular Dystrophy

    Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or[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] muscular dystrophy Spinal muscular atrophy (SMA) Myotonia congenita Myotonic dystrophy Charcot Marie Tooth disease (hereditary sensory motor neuropathy) At the Pediatric[ynhh.org]

  • Multifocal Motor Neuropathy

    Abstract Multifocal motor neuropathy (MMN) and progressive muscular atrophy (PMA) are associated with IgM monoclonal gammopathy or the presence IgM anti-GM1-antibodies.[ncbi.nlm.nih.gov] In the first patient the symptoms were slowly progressive with bulbar muscle impairment, generalized weakness, muscular atrophy with cramps and fasciculations.[moh-it.pure.elsevier.com] Monoclonal gammopathy was determined by immunoelectrophoresis and immunofixation in serum from 445 patients with ALS, 158 patients with progressive muscular atrophy (PMA),[ncbi.nlm.nih.gov]

  • Spinal and Bulbar Muscular Atrophy

    KEYWORDS: CAG/polyglutamine expansion; androgen receptor; neuromuscular disease; spinal and bulbar muscular atrophy; testosterone[ncbi.nlm.nih.gov] Abstract Spinal and bulbar muscular atrophy (SBMA) is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy[ncbi.nlm.nih.gov] The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue[ncbi.nlm.nih.gov]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Homepage Rare diseases Search Search for a rare disease X-linked distal spinal muscular atrophy type 3 Disease definition X-linked distal spinal muscular atrophy type 3 is[orpha.net] 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] They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe[merckmanuals.com]

  • Myotonic Dystrophy

    Neuromuscular disorders like myotonic dystrophy (dystrophia myotonica or Steinert's disease) and spinal muscular atrophy are associated with perioperative complications related[ncbi.nlm.nih.gov] Clinical Presentation: Variable, progressive disability; facial and distal limb muscle weakness with myotonia; cataracts; cardiac conduction defects; diabetes mellitus; and[ajnr.org] Other typical findings of the disease were frontal alopecia, bilateral palpebral ptosis, testicular atrophy, muscular weakness with distal predominance, generalized hyporeflexia[revespcardiol.org]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Homepage Rare diseases Search Search for a rare disease Spinal muscular atrophy with respiratory distress type 1 Disease definition Spinal muscular atrophy with respiratory[orpha.net] 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] The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[explainmedicine.com]

  • Spinal Muscular Atrophy Type 3

    Spinal muscular atrophies (SMAs) are neurodegenerative disorders caused by mutations in the survival motor neuron 1 (SMN1) gene.[symptoma.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] Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001;9(7):484-91. D'Amico A, et al. Spinal muscular atrophy.[genetics4medics.com]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    muscular atrophy, but have different genetic causes.[togetherinsma.com] Symptoms include pharyngeal muscle weakness (muscles that are involved in swallowing), weak facial muscles, progressive loss of speech, and tongue muscle atrophy.[advancedpsy.com] Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[em-consulte.com]

  • Scapuloperoneal Spinal Muscular Atrophy

    We previously described a large New England kindred exhibiting an autosomal dominant neurogenic SP syndrome (scapuloperoneal spinal muscular atrophy, SPSMA).[ncbi.nlm.nih.gov] 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] Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness[amboss.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C4

    ORPHA83418 G12.1 #253550 Chronic infantile spinal muscular atrophy Chronic spinal muscular atrophy Intermediate spinal muscular atrophy[catalogue.rd-connect.eu] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] ATROPHIES & MOTOR NEURON DISEASES Spinal muscular atrophy, type I-IV (SMN1) Spinal muscular atrophy, autosomal dominant, proximal, adult-onset (VAPB) Spinal muscular atrophy[meduniwien.ac.at]

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