No abstract available.
Distal Myopathies*

No abstract available.
Distal Myopathies* ; Myopathies, Nemaline*

Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessively inherited neuromuscular disorder characterized by early adult-onset weakness of distal muscles, rimmed vacuoles in muscle biopsy, and mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. The authors describe a patient with typical clinical features of NM confirmed by GNE mutation. Mutation analysis of the GNE gene revealed that the patient was a compound heterozygous for V572L and C13S mutations.
Biopsy ; Distal Myopathies ; Humans ; Muscles ; Muscular Diseases* ; Phosphotransferases ; Vacuoles

Distal myopathy with rimmed vacuoles is a rare muscle disease and, so far as we know, it has not been reported in Korea as yet. This disorder is known to be inherited as autosomal recessive trait and to have no specific treatment. Hereby, we report 3 patients of distal myopathy with rimmed vacuoles in a family. The clinical characteristics of these patients were slowly progressive symmetrical muscle weakness and wasting of all 4 extremities, worse in distal legs. The pretibial muscles were involved more markedly than the calf muscles. Serum muscle enzymes were increased. The prominent EMG findings were myopathic changes, but reduced recruitment was occasionally found in some distal muscles The muscle biopsies of right biceps brachii muscle were performed in two patients, which showed the characteristic rimmed vacuoles by light microscope. Membranous whorls and randomly oriented intracytoplasmic filaments were found by electron microscope. The severity of pathological abnormalities were related to the clinical status of the patient. One had been treated with steroid(prednisolone) for several years but with no improvement.
Biopsy ; Distal Myopathies* ; Extremities ; Humans ; Korea ; Leg ; Muscle Weakness ; Muscles ; Vacuoles*

BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT: A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T). CONCLUSIONS: This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.
Adult ; Distal Myopathies ; Female ; Humans ; Lifting ; Lower Extremity ; Muscular Diseases* ; N-Acetylneuraminic Acid ; Phosphotransferases ; Pregnancy*

Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace-tylmannosamine kinase (GNE) gene was identified as the identified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs.
Biopsy ; Creatine Kinase ; Diagnosis, Differential ; Distal Myopathies ; Humans ; Korea ; Leg ; Muscular Diseases* ; Phosphotransferases ; Quadriceps Muscle ; Vacuoles

Progressive muscular dystrophy is a genetically determined myopathy of unknown etiology and is a primary degenerative disease of skeletal muscle fibers. The authors reviewed 32 cases of progressive muscular dystrophy and made following observations. 1. The types among the 32 cases were as follows. 1) Duchenne type ; 16 2) Limb-Girdle type ;12 3) Facioscapulohumeral type ;3 4) Distal myopathy ;1 5) Ocular myopathy ;0 2. 13 of the 32 patients had relevant family history. 3. In general, creatinine excretion was decreased in 24-hour urine and creatine was increased. 4. 6 of the 10 patients tested had increased serum C.P.K. level.
Creatine ; Creatinine ; Distal Myopathies ; Humans ; Muscle Fibers, Skeletal ; Muscular Diseases ; Muscular Dystrophies

Ihree cases in a family had progressive muscle weakness and atropy affecting distal hands at first and later involvement of proximal arms and legs. The disorder seemed to be inherited through an autosomal dominant trait with symptom onset in early adulthood, and with slow progression. In one of these patients, the EMG revealed myopathic processes in the muscles of upper extremity and tibialis anterior and gastrocnemius muscles. Biopsy of the left rnedial gastrocnemius muscle showed variation in fiber size, regenerating fibers with vaculoes and mild inflammatory changes. However serum creatine kinase was within normal range. EMG study in others showed similar myopathic processes. The severity and widespreadness of symptoms and EMG abnormalities seemed to be related to the duration of the disease.
Arm ; Biopsy ; Creatine Kinase ; Distal Myopathies* ; Hand ; Humans ; Leg ; Muscle Weakness ; Muscle, Skeletal ; Muscles ; Reference Values ; Upper Extremity

A stomach cancer patient is reported, who presented with asterixis and dysarthria, after the administration of 5-fluorouracil derivatives, and progressed to a state of arnnesia and disorientation. At first impression was metastatic brain tumor however7 the result of a cerebrospinal fluid cytology for malignancy was negative, and magnetic resonance imaging study(MRI) revealed diffuse hyperintense lesion of the white matter, indicative of leukoencephalopathy. Upon discontinuing the drugs, patient recovered significantly.lly predominant muscle weakness from distal myopathy with rimmed vacuole formation While we present a young female.
Brain Neoplasms ; Cerebrospinal Fluid ; Distal Myopathies ; Dysarthria ; Dyskinesias ; Female ; Fluorouracil* ; Humans ; Leukoencephalopathies* ; Magnetic Resonance Imaging ; Muscle Weakness ; Stomach Neoplasms ; Vacuoles

Inclusion body myositis (IBM) is a chronic inflammatory myopathy with characteristic rimmed vacuoles. Cytoplasmic and intranuclear filamentous inclusions in muscle speci men. The clinical features manifest male dominance with the onset between the second and eighth decade but usually after the age of 50 years. Slow progression of painless muscle weakness, normal or mildly elevated serum CK level, myopathic and neurogenic eIectromyographic patterns and refractory to steriod therapy. The presence of rimmed vacuoles and filamentous inclusions in myofiber gives an important clue in the diagnosis of IBM, however, it is very difficult to differentiated young age onset IBM with distally predominant muscle weakness from distal myopathy with rimmed vacuole formation. While we present a young female patient who had slow progression of painless distal muscle weakness in both upper and lower extremities for 1 year, previously published articles concerning of IBM and distal myopathy with rimmed vacuole formation are reviewed and our own differential points are discussed in the diagnosis of this case as IBM.
Cytoplasm ; Diagnosis ; Distal Myopathies ; Female ; Humans ; Inclusion Bodies* ; Lower Extremity ; Male ; Muscle Weakness ; Muscular Diseases* ; Myositis ; Myositis, Inclusion Body* ; Vacuoles