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31 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Limb Weakness, Reduced Fetal Movement

  • Spinal Muscular Atrophy Type 1

    We present a baby with spinal muscular atrophy type 1, an inherited disorder causing progressive weakness, leading to complete paralysis of respiratory, facial and limb muscles[ncbi.nlm.nih.gov] Symptoms include tremors of the hands, muscle cramps, limb weakness, and twitching.[healthline.com] There may be a history of reduced fetal movements in utero. Mortality/morbidity : median survival is 7 months - 95% die before 18 months.[patient.info]

  • Spinal Muscular Atrophy

    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] As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu] We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy.[ncbi.nlm.nih.gov]

  • 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] weakness, hypotonia Bulbar palsy Late Microcephaly Oculomotor defects: strabismus, nystagmus, oculomotor apraxia Cognitive defects Life expectancy 1 year Diagnostics Genetic[amboss.com] Antenatally, the mother, noticed reduced fetal movements in the last 2 weeks of gestation, and there was polyhydramnios on antenatal scans.[avicennajmed.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] The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing[kennedykrieger.org] Congenital DM1 often presents before birth as polyhydramnios and reduced fetal movements.[doi.org]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    In family A the pathological findings and the clinical presentation with symmetrical proximal limb weakness show similarities with autosomal dominant SMA.[link.springer.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] weakness, hypotonia Bulbar palsy Late Microcephaly Oculomotor defects: strabismus, nystagmus, oculomotor apraxia Cognitive defects Life expectancy 1 year Diagnostics Genetic[amboss.com]

  • Myotonic Dystrophy

    Clinical Presentation: Variable, progressive disability; facial and distal limb muscle weakness with myotonia; cataracts; cardiac conduction defects; diabetes mellitus; and[ajnr.org] Patient-reported perceived changes (worse/stable) in balance, walking, lower-limb weakness, stair-climbing and hand weakness were used as criteria.[ncbi.nlm.nih.gov] Reduced fetal movement and hydramnios are often noted during such pregnancies. Affected males have few offspring secondary to gonadal atrophy.[disorders.eyes.arizona.edu]

  • Adult Spinal Muscular Atrophy

    As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu] 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] weakness, hypotonia Bulbar palsy Late Microcephaly Oculomotor defects: strabismus, nystagmus, oculomotor apraxia Cognitive defects Life expectancy 1 year Diagnostics Genetic[amboss.com]

  • 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] weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease.[jkna.org] As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu]

  • Lambert Eaton Myasthenic Syndrome

    MuSK MG should be considered if there is facial or tongue weakness with atrophy, or weakness that predominates in neck or shoulder muscles.[docksci.com] Here, we describe a patient with a 5-year history of cervical myelopathy who presented with recurrent limb weakness of her limbs and complained of recent progressive weakness[ncbi.nlm.nih.gov] fetal movement.[intechopen.com]

  • 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 most common symptoms at initial presentation were hand tremor (86%), limb weakness (86%), and perioral fasciculation (76%).[ncbi.nlm.nih.gov] There may be a history of reduced fetal movements in utero. Mortality/morbidity : median survival is 7 months - 95% die before 18 months.[patient.info]

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