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107 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Limb Weakness, Respiratory Muscle Weakness

  • Spinal Muscular Atrophy Type 1

    They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.[ghr.nlm.nih.gov] 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]

  • Myotonic Dystrophy

    Children with congenital-onset DM1, once they survive the crucial neonatal period of respiratory muscle weakness with the help of assisted ventilation, usually show improvements[mda.org] 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]

  • Spinal Muscular Atrophy

    Progressive respiratory muscle weakness with bulbar involvement is the main cause of morbidity and mortality in type I and severe type II spinal muscular atrophy.[ncbi.nlm.nih.gov] 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]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and[amboss.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] In family A the pathological findings and the clinical presentation with symmetrical proximal limb weakness show similarities with autosomal dominant SMA.[link.springer.com]

  • Muscular Dystrophy

    Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.[ninds.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] 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]

  • Spinal Muscular Atrophy Type 3

    Respiratory muscle weakness, which predisposes the majority of patients suffering from type 1 or type 2 to nocturnal hypoventilation, recurrent infections and respiratory[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] weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease.[jkna.org]

  • Adult Spinal Muscular Atrophy

    Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and[amboss.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] 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 with Respiratory Distress Type 1

    Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading[ncbi.nlm.nih.gov] 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]

  • Alpha-B Crystallinopathy

    Respiratory muscle weakness can also be a major complication in some patients.[medlink.com] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis.[orpha.net]

  • Amyotrophic Lateral Sclerosis

    Respiratory muscle weakness and failure is a common complication late in the course of disease.[ncbi.nlm.nih.gov] In cranial nerves, common symptoms are atrophy of facial muscles and progressive bulbar palsy (PBP).[flexikon.doccheck.com] We report the case of a 61-year-old man who presented with progressively worsening limb weakness and dysphagia.[ncbi.nlm.nih.gov]

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