Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi- ological and nerve biopsy fi...Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi- ological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop- athy （n = 6）, perineuritis （n = 2）, chronic inflammatory demyelinating polyradiculoneuropathy （n = 2） or Lewis-Sumner syndrome （n = 1） on the basis of clinical features, laboratory data, elec- trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflamma- tory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients （11/14）. Nerve biopsy pathological diagno- sis is crucial to the etiological diagnosis of multiple mononeuropathy.展开更多
To the Editor:Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement,which has been linked to 18 disease-causing genes.The gene responsible for Laing distal myopathy(LDM,also ...To the Editor:Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement,which has been linked to 18 disease-causing genes.The gene responsible for Laing distal myopathy(LDM,also called distal myopathy 1;OMIM 160500)was determined to be the myosin heavy chain 7 gene(MYH7)located on chromosome 14q11.[1] MYH7 encodes the myosin heavy chain beta isoform(MyHC-β)and is expressed predominantly in the cardiac ventricle and in type 1 skeletal muscle fibers.展开更多
To the Editor:A 39-year-old man presented with progressive limb atrophy and weakness.The patient had generalized muscular hypotonia at birth;he could not run well in elementary school.Neurologic examination revealed a...To the Editor:A 39-year-old man presented with progressive limb atrophy and weakness.The patient had generalized muscular hypotonia at birth;he could not run well in elementary school.Neurologic examination revealed atrophy of the facial muscles and limited left eye adduction.In the upper limbs,the patients showed proximal muscle atrophy and weakness[Figure 1A],while in the lower extremities,the weakness was more prominent distally than proximally.Neither spontaneous or percussion myotonia nor muscle hypertrophy was observed.展开更多
文摘Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi- ological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop- athy （n = 6）, perineuritis （n = 2）, chronic inflammatory demyelinating polyradiculoneuropathy （n = 2） or Lewis-Sumner syndrome （n = 1） on the basis of clinical features, laboratory data, elec- trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflamma- tory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients （11/14）. Nerve biopsy pathological diagno- sis is crucial to the etiological diagnosis of multiple mononeuropathy.
文摘To the Editor:Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement,which has been linked to 18 disease-causing genes.The gene responsible for Laing distal myopathy(LDM,also called distal myopathy 1;OMIM 160500)was determined to be the myosin heavy chain 7 gene(MYH7)located on chromosome 14q11.[1] MYH7 encodes the myosin heavy chain beta isoform(MyHC-β)and is expressed predominantly in the cardiac ventricle and in type 1 skeletal muscle fibers.
文摘To the Editor:A 39-year-old man presented with progressive limb atrophy and weakness.The patient had generalized muscular hypotonia at birth;he could not run well in elementary school.Neurologic examination revealed atrophy of the facial muscles and limited left eye adduction.In the upper limbs,the patients showed proximal muscle atrophy and weakness[Figure 1A],while in the lower extremities,the weakness was more prominent distally than proximally.Neither spontaneous or percussion myotonia nor muscle hypertrophy was observed.
