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A thorough history is vital in the evaluation of neuromuscular diseases. The presentation of a peripheral neuropathy in the pediatric population may be different from that of an adult. The nature of the chief complaint helps define the type of neuropathic process. Patients may present with weakness, sensory disturbances, pain, autonomic disturbance, atrophy, ataxia, or a combination thereof. The time course of the symptoms is an important diagnostic clue, whether it is acute, subacute, or chronic (relapsing, recurrent, progressive, and so forth). Neuropathies can present with a number of different anatomic patterns. Symmetric or asymmetric, focal or diffuse, helps differentiate between a mononeuropathy, mononeuropathy multiplex, polyneuropathy, radiculopathy, polyradiculopathy, or plexopathy.1
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In the history of a neuromuscular disorder, the examiner should always ask specifically about trauma, toxic exposures (including recreational drugs and alcohol), infections or vaccinations, dietary deficiencies, medications (both past and present), and concomitant medical conditions (Table 14-1).1 Constitutional symptoms such as weight loss or unexplained fever may direct the evaluation toward an underlying etiology. Family history may be extremely important in the neuropathies seen during childhood since many of these disorders have a genetic basis.
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A thorough physical examination is very important in the evaluation of neuromuscular disorders. The cranial nerves are rarely involved in a typical peripheral neuropathy but are commonly involved in Guillain–Barré syndrome (GBS), sarcoid, carcinomatosis, and diphtheria.1 Atrophy and its distribution can assist with certain diagnoses such as Charcot-Marie-Tooth disease with the classic champagne bottle legs. As with atrophy, the distribution of weakness guides diagnosis. Most polyneuropathies affect distal muscles of lower extremities first. Most demyelinating and certain acute motor and toxic neuropathies affect all muscles of limbs, trunk, neck, and some facial muscles. With the help of the history, try to narrow weakness into a pattern of mononeuropathy, mononeuropathy multiplex, polyneuropathy, radiculopathy, polyradiculopathy, or plexopathy.
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While the sensory examination is very important in the assessment of a patient with a neuropathy, it may be very difficult to formally assess in children, especially the very young. Most peripheral neuropathies have distal, symmetric, sensory loss in lower extremities first (stocking-glove distribution). Sensory loss exceeds weakness in most toxic neuropathies.
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The reflex examination usually reveals diminished or completely lost reflexes. The reflexes may be diminished out of proportion to the degree of weakness.1
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A general skin and musculoskeletal examination is also of great importance. Pes cavus is often seen in hereditary neuropathies secondary to weakness of peroneal and pretibial muscles more than calf muscles. A "claw" hand may arise in the upper extremity for ...