BILATERAL DISTAL LOWER LIMB MUSCLE WEAKNESS: DIAGNOSTIC APPROACH
Abstract
Background: Patients with pure distal weakness represent a diagnostic challenge. Most of them prove to have a peripheral neuropathic condition, either neuropathy or radiculopathy, but other diagnoses less common, should be considered as well.
Methods: We report a case of a young woman with bilateral drop foot and describe the diagnostic approach, that led to the final diagnosis.
Results: Electrodiagnostic studies limited the diagnostic umbrella, and with the help of muscle biopsy and genetic testing, she was identified as suffering from Nonaka myopathy, one of the five classic distal myopathies.
Discussion: Distal myopathies, neuromuscular junction disorders and central nervous system lesions are rare but nevertheless possible causes of distal limb weakness. In this review article, these conditions are discussed in the light of electrodiagnostic studies, that are a valuable diagnostic tool in investigating these cases and help distinguish one from the other.