neuromuscular disease; myoneural disease

Clinical manifestations

• muscle weakness
  • dyspnea related to respiratory muscle weakness can be the presenting symptom for patients with neuromuscular disease
• sensory
  • sensory impairment
  • pain
  • proprioceptive impairment
• autonomic
  • constipation, impotence, orthostatic hypotension, hypohidrosis

Diagnostic procedures

• electromyography & nerve conduction studies
  • confirm neuropathy
  • differentiate axonal & demyelinating forms
  • distinguish neuropathy from myopathy
  • distinguish radiculopathy from plexopathy
• vital capacity to assess impending respiratory failure

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

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

autonomic dysfunction

• diabetes mellitus, amyloidosis, autoiimmune dysautonomia, paraneoplastic syndrome

Management

• nocturnal non-invasive positive pressure ventilation is the usual initial method of respiratory assistance (not CPAP)
  • most patients benefit from BiPap
  • improves quality of life
  • delays progression of respiratory failure in patients with neuromuscular disease

More general terms

• neurologic disease
• muscular disease; myopathy

More specific terms

• 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