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Takatoshi Sato,
Yukiko K Hayashi, Yasushi Oya,
Tomoyoshi Kondo,
Kazuma Sugie,
Daita Kaneda,
Hideki Houzen,
Ichiro Yabe,
Hidenao Sasaki,
Satoru Noguchi,
Ikuya Nonaka,
Makiko Osawa,
Ichizo Nishino
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ABSTRACT: DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-terminal domain. Only three different mutations have been identified in 11 families. In this study, we identified seven Japanese individuals from four unrelated families who carried a DNAJB6 mutation. We found a novel p.Phe96Ile substitution and a previously reported p.Phe96Leu change in the G/F domain of DNAJB6. All affected individuals showed slowly progressive muscle weakness, mainly in their legs, and their muscle pathology showed cytoplasmic inclusions and rimmed vacuoles. Our immunohistochemical analysis detected cytoplasmic accumulations associated with chaperone-assisted selective autophagy together with intranuclear accumulations of DNAJB6 and heat shock 22-kD protein 8 (HSPB8). This is the first report of Asian patients with LGMD1D. Our new findings may contribute to understanding the pathological mechanisms of this myopathy.
Neuromuscular Disorders 02/2013; · 2.80 Impact Factor
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ABSTRACT: GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations. Respiratory dysfunction has not been reported in GNE myopathy patients. In this study, we retrospectively reviewed the respiratory function of 39 severely affected GNE myopathy patients (13 men, 26 women) from medical records, and compared these parameters with various other patient characteristics (e.g., GNE mutations, age at onset, creatine kinase levels, and being wheelchair-bound) for correlations. The mean % forced vital capacity [FVC] was 92 (26) (range, 16-128). In 12/39 (31%) patients, %FVC was <80%. Of these 12 patients, 11 (92%) were entirely wheelchair-dependent. These patients exhibited significantly earlier onset (20 [4] vs. 30 [8]years, p<0.001) and lower creatine kinase levels (56 [71] vs. 279 [185]IU/L) than patients with normal respiratory function. Two patients exhibited severe respiratory failure and required non-invasive positive pressure ventilation. Patients with a homozygous mutation in the N-acetylmannosamine kinase domain exhibited lower %FVC, while only one compound heterozygous patient with separate mutations in the uridinediphosphate-N-acetylglucosamine 2-epimerase and the N-acetylmannosamine kinase domains had respiratory dysfunction. Our results collectively suggest that GNE myopathy can cause severe respiratory failure. Respiratory dysfunction should be carefully monitored in patients with advanced GNE myopathy characterized by early onset and homozygous homozygous mutations in the N-acetylmannosamine kinase domain.
Neuromuscular Disorders 11/2012; · 2.80 Impact Factor
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Madoka Mori-Yoshimura,
Aya Okuma, Yasushi Oya,
Chieko Fujimura-Kiyono,
Hideto Nakajima,
Keita Matsuura,
Aya Takemura,
May Christine V Malicdan,
Yukiko K Hayashi,
Ikuya Nonaka,
Miho Murata,
Ichizo Nishino
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ABSTRACT: Missense mutations in dynamin 2 gene (DNM2) are associated with autosomal dominant centronuclear myopathy (CNM) with characteristic histopathological findings of centrally located myonuclei in a large number of muscle fibers.
To identify Japanese CNM caused by DNM2 mutations (DNM2-CNM), we sequenced DNM2 in 22 unrelated Japanese patients who were pathologically diagnosed with CNM. The clinical and pathological findings of DNM2-CNM in patients were reviewed.
We identified 3 different heterozygous missense mutations (p.E368K, p.R369W, and p.R465W) in 4 probands from 4 families. Clinically, calf muscle atrophy and pes cavus are features that are highly suggestive of DNM2-CNM among all CNMs. Pathologically, all 4 DNM2-CNM patients showed a radial distribution of myofibrils in scattered fibers, type 1 fiber atrophy, type 1 fiber predominance, and type 2C fibers. None of the non-DNM2-CNM patients exhibited all the 4 abovementioned pathological features, although some patients showed radial distribution without type 1 fiber atrophy and/or type 2C fibers.
These results indicate that the clinicopathological features of DNM2-CNM are rather homogeneous and can be distinguished from the features of non-DNM2-CNM.
Clinical neurology and neurosurgery 05/2012; 114(6):678-83. · 1.30 Impact Factor
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Madoka Mori-Yoshimura,
Kazunari Monma,
Naoki Suzuki,
Masashi Aoki,
Toshihide Kumamoto,
Keiko Tanaka,
Hiroyuki Tomimitsu,
Satoshi Nakano,
Masahiro Sonoo,
Jun Shimizu,
Kazuma Sugie,
Harumasa Nakamura, Yasushi Oya,
Yukiko K Hayashi,
May Christine V Malicdan,
Satoru Noguchi,
Miho Murata,
Ichizo Nishino
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ABSTRACT: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, also called distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM), is a rare, progressive autosomal recessive disorder caused by mutations in the GNE gene. Here, we examined the relationship between genotype and clinical phenotype in participants with GNE myopathy.
Participants with GNE myopathy were asked to complete a questionnaire regarding medical history and current symptoms.
A total of 71 participants with genetically confirmed GNE myopathy (27 males and 44 females; mean age, 43.1±13.0 (mean±SD) years) completed the questionnaire. Initial symptoms (e.g., foot drop and lower limb weakness) appeared at a mean age of 24.8±8.3 years. Among the 71 participants, 11 (15.5%) had the ability to walk, with a median time to loss of ambulation of 17.0±2.1 years after disease onset. Participants with a homozygous mutation (p.V572L) in the N-acetylmannosamine kinase domain (KD/KD participants) had an earlier disease onset compared to compound heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase and N-acetylmannosamine kinase domains (ED/KD participants; 26.3±7.3 vs. 21.2±11.1 years, respectively). KD/KD participants were more frequently non-ambulatory compared to ED/KD participants at the time of survey (80% vs. 50%). Data were verified using medical records available from 17 outpatient participants.
Homozygous KD/KD participants exhibited a more severe phenotype compared to heterozygous ED/KD participants.
Journal of the neurological sciences 04/2012; 318(1-2):100-5. · 2.32 Impact Factor
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Yoshihiko Furusawa,
Madoka Mori-Yoshimura,
Toshiyuki Yamamoto,
Chikako Sakamoto,
Mizuki Wakita,
Yoko Kobayashi,
Yutaka Fukumoto, Yasushi Oya,
Tokiko Fukuda,
Hideo Sugie,
Yukiko K Hayashi,
Ichizo Nishino,
Ikuya Nonaka,
Miho Murata
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ABSTRACT: We examined the efficacy of 2-year enzyme replacement therapy (ERT) using recombinant human α-glucosidase (GAA; Myozyme®) in five long-term ventilator-dependent adults and aged patients with advanced, late-onset glycogen storage disease type II (GSDII, also known as Pompe disease). Although all patients had advanced respiratory failure and were ventilator-dependent for more than 6 years, four showed obvious improvements in muscle strength, pulmonary function, and activities of daily living after ERT. Improvement in each parameter was more prominent in the first year than in the second year. Values in the second year were still significantly better than those at study entry and indicate stabilization in the clinical status of all patients. These results suggest that ERT continues to be effective in the second year of treatment even in patients suffering from advanced late-onset GSDII disease with severe respiratory failure.
Journal of Inherited Metabolic Disease 03/2012; 35(2):301-10. · 3.58 Impact Factor
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ABSTRACT: Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.
Neuromuscular Disorders 12/2011; 22(5):389-93. · 2.80 Impact Factor
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Mami Shimizu-Fujiwara,
Hirofumi Komaki,
Eiji Nakagawa,
Madoka Mori-Yoshimura, Yasushi Oya,
Toshiyuki Fujisaki,
Yasuko Tokita,
Norika Kubota,
Rie Shimazaki,
Kimiko Sato, [......],
Katsumasa Goto,
Hitoshi Mochizuki,
Satoko Takanoha,
Katsuhisa Ogata,
Mitsuru Kawai,
Masaaki Konagaya,
Tatsushi Miyazaki,
Katsunori Tatara,
Kenji Sugai,
Masayuki Sasaki
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ABSTRACT: Skeletal muscle metabolism is a major determinant of resting energy expenditure (REE). Although the severe muscle loss that characterizes Duchenne muscular dystrophy (DMD) may alter REE, this has not been extensively investigated.
We studied REE in 77 patients with DMD ranging in age from 10 to 37 years using a portable indirect calorimeter, together with several clinical parameters (age, height, body weight (BW), body mass index (BMI), vital capacity (VC), creatine kinase, creatinine, albumin, cholinesterase, prealbumin), and assessed their influence on REE. In addition, in 12 patients maintaining a stable body weight, the ratio of energy intake to REE was calculated and defined as an alternative index for the physical activity level (aPAL).
REE (kcal/day, mean±SD) in DMD patients was 1123 (10-11 years), 1186±188 (12-14 years), 1146±214 (15-17 years), 1006±136 (18-29 years) and 1023±97 (≥30 years), each of these values being significantly lower than the corresponding control (p<0.0001). VC (p<0.001) was the parameter most strongly associated with REE, followed by BMI (p<0.01) and BW (p<0.05). The calculated aPAL values were 1.61 (10-11 years), 1.19 (12-14 years), 1.16 (15-17 years), and 1.57 (18-29 years).
The REE in DMD patients was significantly lower than the normal value in every age group, and strongly associated with VC. Both the low REE and PAL values during the early teens, resulting in a low energy requirement, might be related to the obesity that frequently occurs in this age group. In contrast, the high PAL value in the late stage of the disease, possibly due to the presence of respiratory failure, may lead to a high energy requirement, and thus become one of the risk factors for development of malnutrition.
Brain & development 05/2011; 34(3):206-12. · 1.74 Impact Factor
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ABSTRACT: We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as muscle weakness, severe hyperesthesia, dyshidrosis, and neurogenic bladder associated with autonomic disturbance developed over several days. Intravenous immunoglobulin therapy gave no obvious improvement of her symptoms. Motor and sensory impairment improved slowly without medical treatment, but dysautonomia persisted for a long time. Sural nerve biopsy revealed axonal degeneration of small fibers, involving both myelinated and unmyelinated fibers, which is compatible with the autonomic sensory and motor neuropathy. AASM is very rare in pediatric populations, and there is no report of AASM associated with HPV-B19 infection.
Brain & development 02/2011; 33(2):161-5. · 1.74 Impact Factor
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ABSTRACT: We report a 29-year-old man with limb-girdle muscular dystrophy type 2M (LGMD2M) caused by a compound heterozygous mutation of 3-kb insertion in the 3'-untranslated region and c.1073A > C (p.Q358P) mutation in exon 9 in FKTN. He had been diagnosed since childhood as having Becker muscular dystrophy based on limb-girdle muscle weakness and calf muscle hypertrophy. Loss of ambulation occurred at age 26 years and cardiomyopathy was noted one year later. Muscle biopsy at age 29 revealed dystrophic changes with loss of immunoreactivity to alpha-dystroglycan (alpha-DG), which prompted us to analyze FKTN and subsequent establishment of the diagnosis of LGMD2M. Brain MRI revealed hypoplasia of the right cerebellar hemisphere and tonsil. Dysplastic part was present in the lower medial part of the hypoplastic hemisphare, which was bordered by a deep cleft. Previously reported LGMD2M patients had mild or minimal muscle weakness in addition to dilated cardiomyopathy. In contrast, our patient had more severe skeletal muscle weakness and loss of ambulation. Treatment with 3-blockers or angiotensin II converting enzyme blockers has been reported to be efficacious for cardiomyopathy in patients with muscular dystrophy. The precise diagnosis should be established early in patients with muscular dystrophy complicated with cardiomyopathy.
Rinsho shinkeigaku = Clinical neurology 09/2010; 50(9):661-5.
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ABSTRACT: We report the beneficial and adverse effects of modafinil for daytime sleepiness in a 62-year-old female patient with myotonic dystrophy. Although it was effective for excessive daytime sleepiness, orolingual dyskinesia appeared the day following administration of modafinil (100 mg/day), and dyskinesia disturbed her daily life including dental treatment. When modafinil was stopped, dyskinesia was improved. However, excessive daytime sleepiness deteriorated gradually; re-treatment with smaller dosage (50 mg every other day) resulted in partial improvement but aggravation of both dyskinesia and diabetes mellitus. Modafinil should be administered carefully when the patient is older or has complications such as glucose intolerance.
Rinsho shinkeigaku = Clinical neurology 08/2010; 50(8):578-80.
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ABSTRACT: We report a case of subcutaneous and mediastinal emphysema in a 39-year-old woman with late-onset Pompe disease who was undergoing non-invasive positive pressure ventilation (NPPV). Although the patient had a history of pneumothorax, she did not present with pneumothorax at the time of admission. She had not undergone adequate respiratory rehabilitation, which resulted in decreased respiratory compliance. We speculated that the emphysema had been caused by an increase in the airway pressure due to NPPV. Decrease in inspiratory pressure of NPPV from 14 cm H2O to 9 cm H2O made the patient dyspneic and hypoxic. Cuirass ventilation by itself resulted in dyspnea and hypoxia. By using a combination of cuirass ventilation (control mode) and NPPV (assist/control mode), we were able to decrease the inspiratory pressure to 7 cm H2O. After 26 days of treatment, the patient recovered from subcutaneous and mediastinal emphysema. After the treatment, her maximum inspiratory capacity was increased from 400 ml to 600 ml, which indicates increased thoracic compliance. Thus, a combination of cuirass ventilation and NPPV is beneficial in managing barotrauma that may occur during NPPV in a respirator-dependent patient.
Rinsho shinkeigaku = Clinical neurology 05/2010; 50(5):306-10.
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ABSTRACT: A 20 year-old woman with myotonic dystrophy type 1 (DM1) presented with fatigue, daytime somnolence, and sudden poor responsiveness. Blood glucose was measured before and after each meal for 4 days, and hypoglycemia was confirmed twice, although neither perspiration nor palpitations occurred in the hypoglycemic state. On a 75 g oral glucose tolerance test (OGTT), fasting blood glucose level was 83 mg/dl, and fasting blood immunoreactive insulin (IRI) level was 5.96 microIU/ml. However, IRI increased to 528 microIU/ml at 60 minutes and blood glucose decreased to 57 mg/dl at 120 minutes of the OGTT. The patient was diagnosed with reactive hypoglycemia due to excessive insulin secretion. Oral administration of pioglitazone improved the excessive insulin secretion as assessed by OGTT. After starting treatment, hypoglycemia was not detected either pre- or post-prandially. After 10 months of treatment, blood glucose level after glucose loading was higher than fasting blood glucose level during OGTT, and the IRI area under the curve of the OGTT decreased. We considered that hypoglycemia unawareness resulted from recurrent hypoglycemic episodes in this patient. Pioglitazone was effective in improving hyperinsulinemia and reactive hypoglycemia in nondiabetic DM1.
Rinsho shinkeigaku = Clinical neurology 10/2009; 49(10):641-5.
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ABSTRACT: We investigated the relationship between nasal flaring and SpO2 in 19 patients with Duchenne muscular dystrophy (DMD) and 26 patients with myotonic dystrophy (DM1). In DMD patients, nasal flaring was observed when SpO2 was lower than 96%, while it was not seen even at 82% of SpO2 in DM1. None of the DM1 patients could perform voluntary nasal flaring. Nasal flaring is a useful indicator of hypoxemia in DMD but not in DM1. It remains to be elucidated whether the lack of nasal flaring in DM1 patients is due to abnormal respiratory central mechanism or nasal muscle weakness.
Rinsho shinkeigaku = Clinical neurology 06/2009; 49(5):278-80.
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ABSTRACT: Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. FKTN mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle weakness and without mental retardation, suggesting that the clinical spectrum of FKTN mutations are wider than previously thought. The current study was designed to further explore the association of FKTN mutations with DCM or hypertrophic cardiomyopathy (HCM).
A total of 172 patients with DCM, 144 patients with familial HCM and 384 control individuals were analyzed for FKTN mutations. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal allele, showing that the heterozygous insertion mutation itself was not associated with DCM. No mutation was found in the HCM patients.
These observations indicated that the compound heterozygous FKTN mutation was a rare cause of DCM. Hyper-CKemia might be indicative of FKTN mutation in DCM.
Circulation Journal 12/2008; 73(1):158-61. · 3.77 Impact Factor
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ABSTRACT: A 26-year-old woman noticed gradually progressive, right lower leg weakness over a 1.5-month period. Neurological examination revealed right hemiparesis with slightly increased deep tendon reflexes, Babinski's sign on the right side, loss of position sense in the right leg, and slight loss of superficial sensation in the right toes. MR FLAIR images showed a high intensity area measuring 5 x 2 x 3 cm in the left frontal lobe, extending to the outer surface of the body of the corpus callosum and the adjacent right cingulate gyrus. Gadolinium enhancement was seen along the cortex and the outer surface of the body of the corpus callosum. CSF findings showed no pleocytosis, a protein content of 32 mg/dl, a sugar level of 85 mg/dl, and an IgG index of 0.46. The biopsy specimen obtained from the superior frontal gyrus showed perivascular cuffing of T-lymphocytes and some B-lymphocytes, as well as multiple small foci of demyelination. Starting on the second day of admission, the patient was treated with methylprednisolone pulse therapy (1,000 mg/day for 3 days); she was then switched to oral prednisolone (20 mg/day). Thereafter, the patient had two clinical relapses: one was due to a lesion in the dorsal part of the medulla oblongata associated with a disturbance of deep sensation in both hands, and the other was due to a lesion involving the right internal capsule, the globus pallidus, and the caudate nucleus associated with left facial nerve palsy. Visual evoked potentials suggested a demyelinating lesion in the right optic nerve. We suspected a diagnosis of multiple sclerosis based on the presence of more than two clinical episodes of neurological deficits with identifiable lesions on MRI. Multiple sclerosis should be considered in the differential diagnosis of lesions located in the outer part of the corpus callosum and transcallosal bilateral hemispheres on MRI, even though inner callosal lesions are common in multiple sclerosis.
Rinsho shinkeigaku = Clinical neurology 06/2008; 48(5):321-7.
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ABSTRACT: A 64-year-old woman with myasthenia gravis (MG) presented with isolated bulbar symptoms. Two years earlier, she had developed neck weakness, diplopia, and ptosis and was diagnosed with MG. Extensive thymectomy was performed, and she was treated with predonisolone (PSL). The neck weakness, diplopia, and ptosis improved over a 2-year period. However, dysphagia developed, and her voice took on a nasal tone that did not improve subjectively even after administration of 10 mg of edrophonium chloride (EC). We then performed videofluorography (VF). After consumption of 10 ml of liquid barium and 8 g of corned beef hash, she attempted to swallow, but the residue remained in the valleculae and the piriform fossa. After the EC injection, her dysphagia on ingestion of corned beef hash improved; however, there was slight subjective improvement in swallowing. Drinking of liquid barium resulted in some residue with slight improvement of dysphagia. After treatment with 70 mg of PSL for 4 weeks, VF showed improvement of dysphagia. Thus, VF, particularly during consumption of solid food, with EC administration is helpful in evaluating bulbar symptoms in patients with MG.
Rinsho shinkeigaku = Clinical neurology 11/2007; 47(10):669-71.
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ABSTRACT: We report beneficial effects of pioglitazone on insulin resistance in diabetes mellitus accompanied with myotonic dystrophy (DM1). We studied eight DM1 patients with diabetes mellitus aged 32 to 60 (mean age 52.1 +/- 8.6 years). Three of them were under glibenclamide treatment, but their plasma glucose control was poor because of occasional hypoglycemia; others had not been treated with any hypoglycemic drugs. We administered a daily dose of 15 mg pioglitazone for 6-36 months (mean period 14.8 +/- 9.1 months). Plasma glucose control improved in all patients. In a 75 g oral glucose tolerance test, plasma glucose level at 120 min dropped from 203.3 +/- 41.7 mg/dl to 153.9 +/- 39.5 mg/dl (p = 0.04); the area under the insulin curve up to 120 min (sigma IRI) dropped from 236.9 +/- 170.2 microU x hr/ml to 169.6 +/- 81.3 microU x hr/ml (p = 0.12). Sigma IRI decreased in four patients with pretreatment sigma IRI > or = 250 microU x hr/ml; it slightly increased in other patients with pretreatment sigma IRI < or = 150 microU x hr/ml. The homeostasis model assessment-insulin resistance (HOMA-IR) improved from 2.1 +/- 1.0 to 1.1 +/- 0.4 (p = 0.04). Impairment of liver functions, cardiac failure, or hypoglycemia was not observed. Pioglitazone treatment is useful to improve insulin resistance and glucose control in DM1 patients with diabetes mellitus, especially patients with reactive hyperinsulinemia to glucose loading.
Rinsho shinkeigaku = Clinical neurology 04/2005; 45(4):287-92.
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ABSTRACT: Patients with myotonic dystrophy (DM1) rarely complain of dyspnea despite of severe hypoxemia. We studied the perception of dyspnea caused by breath-holding in 9 DM1 patients and 8 healthy control subjects. The patients, as well as the control subjects, complained of dyspnea and showed decrease in SpO2. In none of the patients but one, however, the bottom SpO2 became lower than the minimal SpO2 recorded in 24-hour monitoring. DM1 patients were able to realize hypoxia caused by apnea, although they had not realized hypoxia that already existed. Consequently, the breath-holding test does not uncover a blunted perception of dyspnea in DM1; an afferent system contributable to air hunger sensation in breath-holding is preserved in DM1. Breath-holding test may be useful for a DM1 patient to recognize the significance of sleep apnea.
Rinsho shinkeigaku = Clinical neurology 03/2005; 45(2):117-20.
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ABSTRACT: We examined the relation of maximum phonation time (MPT) and vital capacity (VC) and reviewed the usefulness of MPT as a respiratory function screening.
18 healthy adult subjects (8 men and 10 women), and 32 myopathic patients (24 men and 8 women).
MPT and VC were measured in sitting position. Six patients were tested with and without air stacking by glossopharyngeal respiration.
In healthy subjects, MPT was 29.9 +/- 11.8 seconds in men and 21.7 +/- 7.8 seconds in women. Second trials showed good reproducibility. The healthy group had no correlation between MPT and VC. The patient group showed a significant positive correlation between MPT and VC (r2= 0.25, p=0.003). All patients with MPT less than 15 seconds showed VC less than 1.5 l and %VC less than 50%. Air-stacking by glossopharyngeal respiration significantly increased the MPT.
MPT is a useful screening test for respiratory muscle weakness. The patients are easily aware of the effect of air-stacking by glossopharyngeal respiration.
Nō to shinkei = Brain and nerve 11/2004; 56(10):873-6.
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ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive weakness and wasting of facial, shoulder-girdle and upper arm muscles. Despite of the characteristic clinical features, the diagnosis of FSHD is sometimes difficult because clinical symptoms are extremely variable including facial sparing type, limb-girdle type, and distal myopathy type. Most of the FSHD patients have a deletion in the subtelomeric region of chromosome 4q35 (FSHMD1A), however the linkage analysis in some families suggested genetic heterogeneity. In the present study, we identified 40 patients without a deletion in the 4q35 region (non-4q35del) among 200 Japanese patients who were clinically suspected to have FHSD. All non-4q35del patients had shoulder-girdle weakness and 75% also had facial weakness. Eight patients showed clinical features that were indistinguishable from FSHD, but two of them had Becker muscular dystrophy. FSHD is clinically, and most likely genetically, as well, variable. Other forms of muscular dystrophy can also mimic FSHD.
Journal of the Neurological Sciences 05/2004; 219(1-2):89-93. · 2.35 Impact Factor
