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neuromuscular disease; myoneural disease

Clinical manifestations: - muscle weakness - dyspnea related to respiratory muscle weakness can be the presenting symptom for patients with neuromuscular disease [1,2] - sensory - sensory impairment - pain - proprioceptive impairment - autonomic - constipation, impotence, orthostatic hypotension, hypohidrosis [1] Special laboratory: - electromyography & nerve conduction studies - confirm neuropathy - differentiate axonal & demyelinating forms - distinguish neuropathy from myopathy - distinguish radiculopathy from plexopathy [1] - vital capacity to assess impending respiratory failure [1,3] Differential diagnosis: muscle weakness - distal extremity muscle weakness - dying-back polyneuropathy (diabetes mellitus) - proximal extremity muscle weakness: myopathy, polyradiculopathy - multifocal muscle weakness with pain: mononeuritis multiplex - focal asymmetric muscle weakness - ALS, inclusion body myositis, multifocal motor neuropathy, radiculopathy - fluctuation muscle weakness: myasthenia gravis - extraocular muscle weakness - myasthenia gravis, mitochondrial myopathy - bulbar muscle weakness (tongue, lips, palate) - ALS, inclusion body myositis, myasthenia gravis - cranial nerve-innervated muscle weakness (CN III & CN VII) - diabetes mellitus, sarcoidosis, Lyme disease, HIV1 infection - muscle weakness of neck extensors - ALS, myasthenia gravis - fasiculations - ALS. Guillain-Barre syndrome, radiculopathy [1] sensory impairment - stocking glove pattern: generalized polyneuropathy - dermatomal pattern: radiculopathy, peripheral nerve lesion - distal pain without hyporeflexia or muscle weakness - small fiber neuropathy - proprioceptive loss in a single extremity - dorsal root ganglion lesion - cancer, Sjogren's syndrome, HIV1 infection [1] autonomic dysfunction - diabetes mellitus, amyloidosis, autoiimmune dysautonomia, paraneoplastic syndrome [1] Management: - nocturnal non-invasive positive pressure ventilation is the usual initial method of respiratory assistance (not CPAP) [1] - most patients benefit from BiPap - improves quality of life - delays progression of respiratory failure in patients with neuromuscular disease [1,2]

Related

motor dysfunction

Specific

Barth syndrome critical illness weakness; critical illness neuromyopathy diaphragm disorder Isaac's syndrome; neuromyotonia; Isaac's-Merten's syndrome; continuous muscle fiber activity syndrome; quantal squander syndrome Kearns-Sayre syndrome (KSS) motor neuron disease multiminicore disease with external ophthalmoplegia (MMDO, MMD) neuromuscular junction disorder paraneoplastic opsoclonus myoclonus ataxia; Kinsbourne syndrome; myoclonic encephalopathy of infants; dancing eyes-dancing feet syndrome pelvic floor disorder

General

muscular disease; myopathy neurologic disease

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 16, 17. American College of Physicians, Philadelphia 2012, 2015
  2. Ambrosino N, Carpene N, Gherardi M. Chronic respiratory care for neuromuscular diseases in adults. Eur Respir J. 2009 Aug;34(2):444-51 PMID: 19648521
  3. Mehta S. Neuromuscular disease causing acute respiratory failure. Respir Care. 2006 Sep;51(9):1016-21 PMID: 16934165
  4. up EH, Pieterse AJ, Ten Broek-Pastoor JM et al Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review. Arch Phys Med Rehabil. 2007 Nov;88(11):1452-64. Review. PMID: 17964887
  5. Barohn RJ, Amato AA. Pattern-recognition approach to neuropathy and neuronopathy. Neurol Clin. 2013 May;31(2):343-61. PMID: 23642713