Effect of short-duration, limited rehabilitation on maintenance of the activities of daily living in patients with acute phase of COVID-19.

[Purpose] To determine whether short-duration, limited rehabilitation is effective in patients with COVID-19. [Participants and Methods] Single-center, retrospective, observational study. Thirty-six inpatients were classified into the three groups: a close contact (CC) group with a negative polymerase chain reaction (PCR) test (n=14); a PCR-positive (PP) group (n=15); and a PCR-positive and transfer (PT) group with severe COVID-19 patients who were transferred to an acute care hospital for treatment and then returned to our hospital (n=7). Short-duration, limited rehabilitation was provided to the CC and PP groups in isolated rooms by a therapist wearing full personal protective equipment, and we assessed the changes in their activities of daily living. [Results] The patients' clinical characteristics at baseline were similar among the three groups. Functional Independence Measure scores in the CC, PP, and PT groups were not different at baseline (69 ± 29, 53 ± 26, and 63 ± 32), but differed after control of COVID-19 (63 ± 25, 47 ± 24, and 32 ± 19). Multivariate regression analysis showed that the implementation of a customized self-exercise program and the Mini Nutritional Assessment Short-Form at baseline were independently associated with Functional Independence Measure score after control of COVID-19. [Conclusion] These results suggest that even short-duration, limited rehabilitation may be effective for preventing decreases in activities of daily living in patients with COVID-19.

Effects of Lee Silverman Voice Treatment (LSVT LOUD) on Swallowing in Patients with Progressive Supranuclear Palsy: A Pilot Study.

OBJECTIVES: Progressive supranuclear palsy (PSP) is an uncommon progressive neurodegenerative disease with no effective cure at present. The initial symptoms resemble those of Parkinson's disease; however, the prevalence of PSP is about one-tenth that of Parkinson's disease. In many cases, dysphagia is severe, and the development of dysphagia is an early predictor of life expectancy. The aim of the current study was to define the effects of Lee Silverman Voice Treatment (LSVT LOUD) on swallowing and voice/speech in seven patients with PSP. METHODS: : Each patient underwent swallowing and voice/speech evaluations before and after 4 weeks of LSVT. Swallowing motility disorders were defined, temporal measures of swallowing were determined by videofluoroscopic evaluation, and voice measures of maximum phonation and speech intelligibility in reading and monologue were examined. RESULTS: After LSVT, the median duration of opening of the upper esophageal sphincter (from the beginning of the posterior movement of the bolus to upper esophageal sphincter opening) on videofluoroscopy was significantly shortened from 0.42 to 0.38 s (Wilcoxon signed-rank test P=0.016). The oral transit duration was decreased in five patients, but the decrease was not significant. Voice changes after LSVT included increases in voice intensity and in sustained duration were not significant. CONCLUSION: In this small study, it was found that LSVT may improve swallowing functions in patients with PSP.

Basic survey for the prevention of intraoral residual medication in older adults: A pilot study.

OBJECTIVE: This study aimed to assess the relationship between oral hygiene/stomatognathic function and residual intraoral medication in older adults and to identify the oral factors associated with residual oral medication. METHODS: The study included 309 older adults (77 men, 232 women, mean age: 74.1 ± 7.4 years) who were prescribed medications at regular intervals. The following survey items were assessed: overall physical condition, intraoral condition and oral function. Participants prescribed oral medication were classified into groups with and without residual medication in the oral cavity. Statistical analysis was performed using univariate analysis for each of the factors contributing to the presence of residual medication. RESULTS: Only 1.9% of all patients had residual medication, which suggests that older adults in this survey had a low risk of residual intraoral medication. However, greater attention should be given to residual intraoral medication in older adults receiving long-term care. Powdered-form oral medications were more likely to remain in the oral cavity. Older adults with residual medication had a tendency to have less occlusal support, poor tongue hygiene and poor tongue movement. Oral function, particularly functions that are closely related to swallowing, was significantly lower in the residual intraoral medication group when compared to those of the group without residual intraoral medication. CONCLUSIONS: Reduced oral function and powered medication were associated with greater residual intraoral medication in this sample of older Japanese adults.

Ingenuity for enabling the habituation of pelvic floor muscle training.

[Purpose] To clarify factors contributing to habituation of pelvic floor muscle training (PFMT) for urinary incontinence. [Subjects and Methods] We included 13 healthy females and examined diurnal and nocturnal urination frequency at initial program participation and at 3 months. The survey used the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF), a 10-level self-assessment of anxiety associated with urinary incontinence, and a 10-level self-evaluation of PFMT understanding and skill acquisition. We evaluated PFMT practice at home and postures that facilitated PFMT. The practice of PFMT at home was surveyed during a 3-month period. [Results] Compared to baseline, the level of skill acquisition assessed by the ICIQ-SF and PFMT according to the 10-level self-evaluation improved significantly at 3 months. The rate of PFMT sessions performed at home per week was high. The number of times PFMT was performed per day was positively correlated with level of understanding and acquisition of skills pertaining to PFMT, according to the 10-level self-assessment. [Conclusion] By incorporating behavior modification techniques appropriate for urinary incontinence and by increasing the level of understanding regarding incontinence and PFMT, as well as the level of skill acquisition, self-efficacy increased. This may have motivated habituation of PFMT.

Effects of increased physical activity on body composition, physical functions, vascular functions, HR-QOL, and self-efficacy in community-dwelling elderly people.

[Purpose] The objective of this study was to clarify the effects of increased number of steps on body composition, physical functions, vascular functions, health-related quality of life (HR-QOL) and self-efficacy in elderly people. [Subjects and Methods] The subjects were 47 elderly persons who resided in Port Island in the Chuo Ward of Kobe City in Hyogo Prefecture, Japan. After the calculation of the mean preintervention physical activity (PA), the subjects were instructed to increase their PA to a target baseline + 1,300 steps/day. Body composition, physical functions, vascular functions, HR-QOL, and self-efficacy were measured at baseline, after 3 and 6 months. These items were compared between a group that increased their PA and a group that did not. [Results] After 6 months, 26.1% of the subjects achieved the PA target. No significant improvements were observed in body composition, physical functions, vascular functions, or self-efficacy for either group after 3 and 6 months. However, the HR-QOL improved significantly after 6 months in the achievement group. [Conclusion] Although the intervention to increase PA did not produce significant improvements after 6 months in body composition, physical functions, vascular functions, or self-efficacy, the HR-QOL improved significantly during this relatively short period.

Effect of the effortful swallow and the Mendelsohn maneuver on tongue pressure production against the hard palate.

Although effortful swallow and the Mendelsohn maneuver are commonly used in dysphagia rehabilitation, little is known about their effects on tongue-palate pressure production. The purpose of this study was to investigate the effects of effortful swallow and the Mendelsohn maneuver on tongue pressure production. Fourteen healthy volunteers (10 men, 4 women; age range = 21-41 years) participated. Tongue pressures during dry swallow, water swallow, effortful swallow, and the Mendelsohn maneuver were measured using a sensor sheet system with five measurement points on the hard palate. Sequential order, duration, maximal magnitude, and the integrated value of tongue pressure at each measurement point were compared among the four tasks. Onset of tongue pressure at the posterior-circumferential parts occurred first in the Mendelsohn maneuver; that at the anterior-median part was earlier than at other parts in the effortful swallow. At all measurement points, tongue pressure duration was significantly longer in the Mendelsohn maneuver than in other tasks. Effortful swallow was most effective in increasing tongue pressure. The integrated value of tongue pressure at the posterior-circumferential parts in the Mendelsohn maneuver and at the median parts in the effortful swallow showed a tendency to increase. These results suggest that tongue pressure increases along a wide part of the hard palate in effortful swallow because the anchor of tongue movement is emphasized at the anterior part of the hard palate. The Mendelsohn maneuver provides prolonged and accentuated tongue-palate contact at the posterior-circumferential parts, which might be important for hyoid-laryngeal elevation during swallowing.

[Is an oral disintegrating tablets a formulation that is easy to ingest for patients experiencing difficulty with eating and swallowing?].

Oral disintegrating tablets (hereafter, ODT) can be ingested without water. We conducted a videoscopic examination to determine whether they are also useful as internal agents for patients experiencing difficulty with eating and swallowing. Normal tablets and dummy preparations of ODT were orally administered to six patients with neurological diseases who were either diagnosed with or aware of difficulty in eating and swallowing, and observations were conducted using a videoscope. Two subjects were able to ingest both the normal tablet and the dummy preparation without any problem; two subjects were able to ingest the normal tablet without any problem but the dummy preparation remained in their pharynx; and two subjects had both the normal tablet and the dummy preparation remained in the pharynx. There was no feeling of residue in the four cases in which the dummy preparation remained in the pharynx. ODT is not necessarily easy to ingest for patients with neurological diseases who have difficulty eating and swallowing, and it was believed that repeated swallowing or alternate swallowing of a thick liquid is required for ingestion.

[Prolonged apnea/hypopnea during water swallowing in patients with amyotrophic lateral sclerosis].

PURPOSE: Swallowing difficulty is increased along with progression of respiratory disturbance in patients with Amyotrophic Lateral Scalerosis (ALS). To analyze the respiratory patterns during swallowing is important for the management of this disease. In this study, we evaluated apnea/hypopnea during water swallowing and the respiratory cycle at rest and after water swallowing. METHOD: We evaluated respiratory patterns in swallowing in 10 ALS patients (66.0 +/- 7.1 years old), in 10 Myotonic dystrophy (MD) patients (46.5 +/- 12.2 years old), and in 10 healthy volunteers as control subjects (61.7 +/- 10.0 years old). The ALS and MD patients had consulted the Department of Neurology of Toneyama National Hospital or Tokushima National Hospital between April 2002 and July 2006. Respiratory patterns were evaluated by simultaneous recording of cervical swallowing sound in water swallow. A hypersensitive microphone measured cervical sound. A thermister was used for pneumography. The means of four continuous respiratory cycles at rest and after swallow of 3 ml water were used for analysis. Respiration with amplitude of 1/2 or smaller than that of the pneumography at rest was defined as hypopnea, and the apnea/hypopnea duration was evaluated as the respiratory suppression time. STATISTICAL ANALYSIS: All analyses were performed using SPSS 11.0J (SPSS Inc., Chicago, IL). RESULTS: In the ALS group, the respiratory cycle was 3.15 +/- 0.76 sec (2.31-4.39 sec) at rest, while after swallowing, it was 2.78 +/- 0.83 sec (1.77-4.80 sec) (p = 0.1). In the MD group, the respiratory cycle was 2.56 +/- 0.46 sec (1.91-3.67 sec) at rest, while after swallowing, it was 2.94 +/- 0.60 sec (2.03-4.29 sec). In the control group, it was 3.46 +/- 0.57 sec (3.18-4.34 sec) at rest and 3.24 +/- 0.50 sec (2.64-4.04 sec) after swallowing. The apnea/hypopnea duration during water swallow was 14.33 +/- 8.89 sec (2.50-30.68 sec) in the ALS group, 3.66 +/- 1.58 sec (1.78-6.42 sec) in the MD group, and 3.64 +/- 1.00 sec (2.34-5.56 sec) in the control group. The apnea/hypopnea duration in the ALS group was significantly longer than that in MD and control groups (p = 0.005, p = 0.004 by the t-test). The ALS patients with severe respiratory failure or with aspiration in videofuoroscopy showed extended apnea/hypopnea duration. CONCLUSION: Prolonged apnea/hypopnea was observed during water swallowing in ALS patients. We speculate that this prolongation is caused by severe swallowing disturbance and respiratory failure, which increases the risk of aspiration. The respiration of ALS patients should be closely monitored during eating.

[Videofluorographic assessment of swallowing function in patients with Duchenne muscular dystrophy].

OBJECTIVE: To identify the characteristics of swallowing function in patients with Duchenne muscular dystrophy (DMD). METHODS: Swallowing function was evaluated using videofluorography (VF) in a cross-sectional observational study of 102 DMD patients (mean age 21.5 years) who had dysphagia or in whom dysphagia was suspected based on clinical signs. Reduced tongue movement, impaired bolus transport to the pharynx, decreased pharyngeal contraction, bolus delivery into the airway, and bolus residue at the epiglottic vallecula and at the piriform recess were qualitatively evaluated for test swallows of jelly and juice. During VF, the length of time of both the oral and pharyngeal phases of swallowing was measured in 59 patients. RESULTS: Patients started to show oral phase abnormalities in their mid-teens and pharyngeal phase abnormalities such as pharyngeal residue around age 20. Oral phase abnormalities was higher with juice than with jelly. Total oral/pharyngeal transit duration was longer with age, and total duration of hyoid maximum elevation was shorter with age. CONCLUSION: The weak positive correlation of total oral/pharyngeal transit duration and age was presumably due to gradual onset of functional abnormalities associated with deteriorated swallowing muscles starting in the teenage years. Reduced tongue movement and impaired bolus transport to the pharynx was more common in teenage DMD patients because they have limited tongue movements associated with structural abnormalities such as macroglossia and open bite. VF showed that the swallowing difficulties were more severe during the oral phase than in the pharyngeal phase in the teenage patients. The pharyngeal phase disorders such as pharyngeal residue and decreased pharyngeal contraction were seen more often in the patients in their 20s, presumably due to deterioration of swallowing muscles that becomes more apparent in the older age group.

Tracheo-arterial fistula in tracheostomy patients with Duchenne muscular dystrophy.

A tracheo-arterial fistula is a serious and life threatening potential complication of a tracheostomy. Since 1984, we experienced nine fatal cases of tracheo-arterial fistula among 60 Duchenne muscular dystrophy (DMD) patients who underwent a tracheostomy. Representative cases included a patient with lordosis (Case 8), in whom the fistula was located in the brachiocephalic artery close to the trachea, and another with severe scoliosis (Case 9), which caused the aorta to compress the trachea. Such anatomical changes can be the cause of a fistula between the trachea and brachiocephalic artery. The anatomical locations between the trachea and brachiocephalic artery are modified by thoracic deformities in DMD patients, and should be confirmed using computed tomography (CT) prior to a tracheostomy procedure. Further, during such a procedure, the tracheal stoma must be placed in a location clearly away from the arteries, and should be followed by regular post-operative examinations using CT and careful management to avoid a tracheo-arterial fistula.

Coagulation system activated in Duchenne muscular dystrophy patients with cardiac dysfunction.

We investigated basic abnormalities of coagulation and fibrinolysis in Duchenne muscular dystrophy (DMD) patients with cardiac dysfunction. Forty seven patients with DMD, aged 13-37 years old, were enrolled. Based on left ventricular ejection fraction (LVEF) results determined by echocardiography, patients were divided into 3 groups: LVEF less than 30% (markedly depressed group), LVEF between 30 and 50% (slightly depressed), and LVEF greater than 50% (normal). We measured serum levels of total fibrin and fibrinogen degradation products (FDP), as well as plasma fibrinogen, thrombin-antithrombin complex (TAT), prothrombin fragment (F1+2), and D-dimer. The levels of TAT and F1+2 in the markedly depressed group were significantly elevated compared with the other groups, whereas FDP, fibrinogen, and D-dimer levels did not differ among the groups. We concluded that activated coagulation is associated with cardiac dysfunction in patients with DMD.

[A clinical trial of creatine monohydrate in muscular dystrophy patients].

To investigate the effects of creatine monohydrate on muscle performance and cognitive functions in muscular dystrophy patients, we made an open trial. Twenty-nine individuals, including 14 myotonic dystrophy (DM), seven facioscapurohumeral muscular dystrophy (FSHD), two limb-girdle muscular dystrophy and six healthy volunteers, were enrolled in this study and 27 participants completed it. All participants took creatine 20g/day for an initial week and 5g/day for successive eight weeks. Somatotonic measurements, global subjective assessment, muscle performance, cardiopulmonary function, cognitive function, laboratory studies and magnetic resonance spectroscopy (MRS) were evaluated at both pre and post examination. Subjective improvements were reported from twelve individuals. Contrary adverse effects were also complained from ten individuals, although all these problems were not serious. Quantitative muscle power was slightly but significantly increased in the patients and the number of the patients who failed to complete cycle ergometer test was decreased. Phosphocreatine concentrations of left calf muscle were not different between pre and post trial examination. No obvious changes were detected in cardiopulmonary assessment, cognitive function and laboratory date. Creatine has certain expectance for muscular dystrophy patients in motor performance. The effect may be achieved not only by increase of energy buffer, because clinical improvements were observed in our study nevertheless no increase was detected in phosphocreatine concentration. The usage of creatine should be managed under medical monitoring since ideal protocol has not yet been established and adverse effects can not be ignored.

[Erythrocyte from Duchenne muscular dystrophy is fragile].

Intermittent indirect hyperbilirubinemia was occasionally observed in Duchenne muscular dystrophy (DMD) patients. We suspected that hyperbilirubinemia might be caused by hemolysis of fragile erythrocytes due to damaged endothelium, which was reported in DMD. To examine the fragility of erythrocytes, we performed osmotic resistance test in 25 DMD, 12 myotonic dystrophy (DM), 12 amyotrophic lateral sclerosis (ALS) and 24 healthy volunteers (male 15, female 9). Minimum resistance (beginning point of hemolysis) of DMD (0.447 +/- 0.016%) was higher than that of age matched male controls (0.425 +/- 0.018%: p = 0.0008) and that of DM (0.440 +/- 0.015%) was also higher than that of total controls (0.423 +/- 0.016%, p = 0.0077). The number of poikilocytes was increased in DMD (35.45 +/- 41.17 per a high magnitude field), however no obvious correlation was detected between the ratio of poikilocytes and resistances. Total bilirubin showed correlation (p = 0.029) to minimum resistance. These findings suggested that erythrocyte membrane is fragile in DMD. Involvement of endothelial damage could not be proven, because all investigated patients showed normal tissue plasminogen activator inhibitor-1. Although the mechanism of fragile erythrocytes in DMD is still unknown, we should pay attention to interpret bilirubin in DMD, because hemolysis due to erythrocyte fragility may influence the value.

[A case of Duchenne muscular dystrophy showing coagulation cascade activation induced by muscle destruction due to convulsion].

A male patient with advanced Duchenne muscular dystrophy (DMD) had tonic-clonic convulsion. He showed transient elevations of serum creatine kinase (CK) and plasma D-dimer. Serum CK, ordinarily 122-386 IU/l, was elevated to 9,262 IU/l, while plasma D-dimer, below 66 ng/ml in normal subjects, was at 543 ng/ml, and these levels were significantly correlated. Serum fibrin and fibrinogen degradation products levels were within a normal range. In the present case, acute muscle destruction due to tonic-clonic convulsion was considered to transiently activate a coagulation cascade. Plasma D-dimer elevation is the result of fibrin thrombus and can induce thrombosis, such as a pulmonary embolism. Thrombosis is a serious life-threatening complication of DMD, though the mechanism remains unclear. There were no thrombotic complications in the present patient, however, acute muscle destruction enhances the coagulation and fibrinolysis status in patients with advanced DMD and may be a candidate cause of thrombosis.

[Process of swallowing disturbance in amyotrophic lateral sclerosis--evaluation of videofluorography and respiratory function].

We investigated the process of swallowing disturbance in the patients with amyotrophic lateral sclerosis (ALS). Swallowing function of 11 patients with ALS (67.5 +/- 7.5 y.o.) was evaluated by videofluorography (VF) and swallowing part of ALS functional rating scale (FRSsw) more than 2 times during the course. Percent of forced vital capacity (%FVC) was also measured. VF measures were oral leakage, poor bolus formation, retention in oral cavity, abnormal transport to pharynx as oral stage and delayed swallowing reflex, laryngeal penetration, aspiration, nasal regurgitation, retention in valleculae and pyriform, and abnormal opening of pharyngo-esophageal segment as pharyngeal stage. FRSsw were defined as 4: normal eating habits, 3: early eating problems--occasional choking 2: dietary consistency changes, 1: needs supplemental tube feeding and 0:NPO (exclusively parental or enteral feeding). According to VF findings in the course of oral stage and pharyngeal stage, in some patients, the disturbance of oral stage preceded that of pharyngeal stage, while in the other patients, the disturbance of pharyngeal stage disturbance preceded that of oral stage, and in another patients were mixed course. There was poor relationship between the FRSsw and VF measure. Even in the patients of FRSsw 4 & 3. penetration/aspiration were found. %FVC was 70.0 +/- 17.3% in patients with FRSsw 4 & 3, 43.1 +/- 17.6% in patients with FRSsw 2 and 40.4 +/- 16.2% in patients with FRS 1 & 0. In the individual course, FRSsw decreased in parallel with %FVC. We conclude that there are various course of swallowing disturbance on VF findings, the oral stage disturbance proceed, the pharyngeal stage disturbance proceed or mixed. Swallowing function deteriorate in parallel with respiratory function in ALS patients. We have to take measures against the dysphagia even in early stage.

[A case of Duchenne muscular dystrophy complicated by thrombotic thrombocytopenic purpura].

We experienced a patient with Duchenne muscular dystrophy (DMD) complicated by thrombotic thrombocytopenic purpura (TTP). This patient exhibited abrupt high fever, renal dysfunction and thrombocytopenia from February 2, 2002. Hemolysis was also indicated by indirect dominant hyperbilirubinemia, although hemoglobin was only slightly decreased. No central nervous system signs and symptoms were detected. TTP was suggested by these findings and confirmed by decreased activity (21%) of von Willebrand factor cleaving protease activity. Plasma exchange was performed for 4 days from February 5, and enabled recovery. Thrombosis, such as cerebral and lung infarction, has occasionally been seen in DMD. Recently, several findings associating muscle degeneration with hypercoagulation have been reported, for example, a strong correlation between serum CK level and FDP. In seven cases of DMD with pulmonary infarction, transient elevation of serum CK was detected prior to LDH elevation. However, there have been no reports of TTP in DMD patients. Since serum CK was not elevated during our patient's clinical course, it is unlikely that muscle degeneration played a role in TTP in this patient. It should be noted that endothelial abnormalities have been reported in DMD, since endothelial injury is considered a fundamental factor in TTP.

[A case of thymoma-associated myasthenia gravis with antibodies against interferon-alpha--a clinico-immunological follow up of the symptoms and its titer].

A 73-year-old woman developed myasthenia gravis (MG) with thymoma. She had a very high level of serum antibodies against interferon-alfa (IFN-alpha). We observed the changes to her clinical symptoms and titer of the antibody during therapeutic course. Although she underwent thymectomy, intravenous methylprednisolone therapy, and oral tacrolimus administration, MG symptoms of the patient were not significantly improved and the antibody titer remained at a high level. IFN-alpha is a potent immunomodulating cytokine that regulates MHC class II expression on antigen presenting cells and activities of NK cells, B cells, and helper/suppressor T cells. This case suggests that IFN-alpha related immunological perturbation participates in the pathogenesis of thymoma-associated myasthenia gravis.

Long-term effect of body weight-supported treadmill training in Parkinson's disease: a randomized controlled trial.

OBJECTIVE: To investigate whether body weight-supported treadmill training (BWSTT) is of long-term benefit for patients with Parkinson's disease (PD). DESIGN: Randomized controlled trial. SETTING: Inpatient rehabilitation unit for neurologic diseases in Japan. PARTICIPANTS: Twenty-four patients (Hoehn and Yahr stages 2.5 or 3) who were not demented (Mini-Mental State Examination score, >27). INTERVENTIONS: Patients were randomized to receive either a 45-minute session of BWSTT (up to 20% of body weight supported) or conventional physical therapy (PT) for 3 days a week for 1 month. MAIN OUTCOME MEASURES: Outcome measures were evaluated at baseline and at 1, 2, 3, and 6 months. Measures included the Unified Parkinson's Disease Rating Scale (UPDRS), ambulation speed (s/10 m), and number of steps taken for a 10-m walk as a parameter for stride length. RESULTS: Four patients needed modification of medications in the follow-up period. Twenty patients (BWSTT, n=11; PT, n=9) without modified medications were analyzed for functional outcome. Age, duration of PD, gender, and doses of medications were comparable. There was no difference in the baseline UPDRS (BWSTT=33.3; PT=32.6), speed (BWSTT=10.8; PT=11.5), and steps (BWSTT=23.4; PT=22.8). The BWSTT group had significantly greater improvement than the PT group (Mann-Whitney U test, Bonferroni adjustment for multiple comparison) in ambulation speed at 1 month (BWSTT=8.5; PT=10.8; P<.005); and in the number of steps at 1 (BWSTT=20.0; PT=22.7; P<.005), 2 (BWSTT=19.5; PT=22.4; P<.005), 3 (BWSTT=20.1; PT=23.1; P<.005), and 4 months (BWSTT=21.0; PT=23.0; P=.006). CONCLUSIONS: BWSTT has a lasting effect specifically on short-step gait in PD.

[An ambiguous pedigree of facioscapulohumeral muscular dystrophy which showed double EcoRI/BlnI resistant short fragments].

We report a facioscapulohumeral muscular dystrophy (FSHD) pedigree having double short (25 kb and 33 kb) BlnI resistant (4 q-like) fragments. Two of three male siblings developed shoulder-girdle weakness and minimum facial involvement from their adolescence. Although the rest (third) brother had non-progressive hemi-palsy in face and upper-extremity and strabismus caused by birth trauma, he had no clinical symptoms of FSHD. Mother presented mild shoulder weakness after cholecystectomy at the age of 50 years, but with no facial involvement and normal serum creatine kinase (CK) level (45 IU/L). On the contrary, father had high CK level (450 IU/L) despite no neurological abnormalities. After EcoRI/BlnI double digestion, two short fragments were detected in the two affected siblings. Then, all family members were examined to determine pathognomonic fragment. Consequently, mother (25 kb and 90 kb) and the third non-affected brother (25 kb and 51 kb) had two 4 q-like fragments, however, three 4 q-like fragments were detected in father (33 kb, 51 kb and 130 kb), proband (25 kb, 33 kb and 130 kb) and affected brother (25 kb, 33 kb and 51 kb). These findings revealed that the 4 q-like 33 kb fragment actually located on 10q26 through inter-chromosomal exchange. Thus the 25 kb fragment inherited from mother was determined as co-segregating with the disease. To ensure genetic diagnosis for FSHD, investigation of family members is surely required.