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72 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Hyporeflexia

  • Spinal and Bulbar Muscular Atrophy

    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] […] bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. 0001288 Gynecomastia Enlarged male breast 0000771 Hyporeflexia[rarediseases.info.nih.gov]

  • 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] Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes.[ncbi.nlm.nih.gov]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    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] 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] Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness[amboss.com]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    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] Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness[amboss.com]

  • 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] […] weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia[mendelian.co] Myositis Generalized muscle weakness Ophthalmoplegia Facial palsy Milia Progressive Respiratory insufficiency Dysphonia Bulbar palsy Tremor Cognitive impairment Cerebellar[mendelian.co]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    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] […] motor neurons, their motor axons, and secondarily the muscle fibers they innervated (the motor unit) Infantile Spinal Muscular Atrophy -autosomal recessive -hypotonicity, hyporeflexia[brainscape.com]

  • Multifocal Motor Neuropathy

    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] Marked apraxia of the superior facial district with an inability to perform voluntary saccades and eye closure and speech impairment with reduction of verbal fluency were[moh-it.pure.elsevier.com]

  • Spinocerebellar Ataxia Type 19

    Harper Source Type: research Fshd / opmd / edmd / dmi Facioscapulohumeral dystrophy (FSHD) is a muscular dystrophy characterized by progressive weakness and atrophy of facial[medworm.com] Affected individuals displayed a lateonset slowly progressive mild cerebellar ataxia, hyporeflexia, and signs of frontal lobe dysfunction.[ncbi.nlm.nih.gov] […] walking Difficulty in walking 0002355 30%-79% of people have these symptoms Cerebellar atrophy Degeneration of cerebellum 0001272 Hyperreflexia Increased reflexes 0001347 Hyporeflexia[rarediseases.info.nih.gov]

  • Myotonic Dystrophy

    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] The clinical course led progressively to major disability with severe proximal weakness and atrophy and, later on, distal weakness, atrophy and neck extensor weakness responsible[doi.org]

  • Congenital Myopathy with Excess of Thin Filaments

    Over time, muscle weakness progresses to proximal muscle groups.[genecards.org] Proximal and distal weakness; hyporeflexia. Respiratory failure in severe forms and can be fatal.[sites.google.com] Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy.[genecards.org]

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