To the Editor: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous inherited neuropathy, with Type 1 A being the most common. CMT IA is characterized by progressive weakness and atrophy ...To the Editor: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous inherited neuropathy, with Type 1 A being the most common. CMT IA is characterized by progressive weakness and atrophy of the distal limb muscles beginning in the peroneal group, mild distal sensory loss, diminished tendon reflexes, and slow nerve conduction velocity . Spinal nerve root hypertrophy is a distinct sign of CMT 1A. This sign can be detected on magnetic resonance images (MRI), but it is often overlooked. Instead, diagnosis of this disease is often made basing on biopsy and genetic testing.展开更多
基金This work was supported by grants from the National Natural Science Foundation of China (No. 81470074 and No. 81401040), Clinical Fund from Beijing Municipal Science and Technology Committee (No. Z 141107002514117), and Beijing Municipal Government Fund (No. PXM2017_026283_000002).
文摘To the Editor: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous inherited neuropathy, with Type 1 A being the most common. CMT IA is characterized by progressive weakness and atrophy of the distal limb muscles beginning in the peroneal group, mild distal sensory loss, diminished tendon reflexes, and slow nerve conduction velocity . Spinal nerve root hypertrophy is a distinct sign of CMT 1A. This sign can be detected on magnetic resonance images (MRI), but it is often overlooked. Instead, diagnosis of this disease is often made basing on biopsy and genetic testing.