Abordaje rehabilitador de paciente con distrofia facioescapulohumeral y fractura de cadera / Rehabilitative Approach to a Patient with Facioscapulohumeral Dystrophy and Hip Fracture

La distrofia facioescapulohumeral es una miopatía progresiva de base genética, con gran variabilidad fenotípica. Se caracteriza por la progresión de cambios distróficos en la dirección cráneo-caudal con lesiones asimétricas de los músculos faciales, cintura escapular, hombros y piernas. Se expone este caso con el objetivo de demostrar la importancia de la rehabilitación en el manejo integral de pacientes con distrofia muscular y fractura de cadera. Se presenta el abordaje rehabilitador en una paciente con distrofia facioescapulohumeral y fractura de cadera tratada mediante artroplastia total de cadera. El tratamiento rehabilitador precoz contribuyó a mejorar el control del dolor y su recuperación funcional(AU)

Facioscapulohumeral dystrophy is a genetically based progressive myopathy (4q35), with great phenotypic variability. It is characterized by the progression of dystrophic changes in the craniocaudal direction with asymmetric lesions of the facial muscles, shoulder girdle, shoulders, and legs. We report the rehabilitation approach in a female patient with facioscapulohumeral dystrophy and hip fracture treated by total hip arthroplasty. A rehabilitation program was included and improvement in pain control and functionality was observed. Rehabilitation is a fundamental pillar in the comprehensive management of patients with muscular dystrophy and hip fracture(AU)

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy / 中华医学杂志(英文版)

<p><b>Background</b>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.</p><p><b>Methods</b>Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.</p><p><b>Results</b>The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.</p><p><b>Conclusions</b>The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.</p>

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles. Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration. Southern blot analysis revealed 8 D4Z4 repeat units, and targeted sequencing of modifier genes demonstrated the c.10331 A>G variant in the FAT1 gene. This FAT1 variant has previously been reported as pathogenic variant in a patient with FSHD-like phenotype. Our study is the first report of a FAT1 mutation in a FSHD1 patient, and suggests that FAT1 alterations might work as a genetic modifier.

Bilateral Cochlear Implantation in Facioscapulohumeral Muscular Dystrophy Presenting Sensorineural Hearing Loss / 대한이비인후과학회지

Facioscapulohumeral muscular dystrophy (FSHD) presents a muscular weakness in the face, shoulder girdle, and legs. In addition, bilateral, progressive, high-frequency sensorineural hearing loss (SNHL) can be expressed. A 3-year-old boy visited with bilateral facial paralysis and bilateral hearing loss. Audiological evaluations revealed bilateral, progressive, sloping SNHL and bilateral hearing aids was used for more than 3 years. Cochlear implantation was carried out on left side when he was 6 years old and on right side when he was 7 years old. Seven months after cochlear implantation on left side, his shoulder muscle weakness was found and the genetic analysis showed decreased D4Z4 repeat size in 4qA allele confirming a diagnosis of FSHD. After auditory rehabilitation using electroacoustic stimulation, his hearing and speech perception were much improved. This case suggests that cochlear implantation can be beneficial in patients with SNHL associated with FSHD.

New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling.</p><p><b>METHODS</b>Here, a cohort of 136 Chinese families including 178 affected individuals and 137 unaffected members were investigated. Genetic analyses were performed using the p13E-11, 4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting. A 10-grade FSHD clinical severity scale was adopted for clinical assessment. The genotype-phenotype correlation was established by linear regression analyses.</p><p><b>RESULTS</b>We observed a roughly inversed correlation between the short EcoRI fragment size and age-corrected clinical severity score in 154 symptomatic patients (P < 0.05). Compared to male patients, a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment. A high incidence (19/42, 45.2%) of asymptomatic (or minimally affected) carriers was found in familial members.</p><p><b>CONCLUSIONS</b>Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a majority of phenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our results suggest that there are multi-factors synergistically modulating the phenotypic expression.</p>

Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. METHODS: We studied 34 genetically confirmed patients who had repeat sizes less than 38 kb, and analyzed their clinical manifestations with a structured protocol. The expressed phenotypes were scored according to the Clinical Severity Score formulated by Ricci and van Overveld. RESULTS: The clinical spectrum ranged widely, from asymptomatic individuals with minimal signs to wheelchair- bound patients. The initial affects were mainly in the facial muscles (68.8%), followed by the shoulder-girdle muscle (28.1%). Asymmetric features of the face and shoulder girdle were also important findings (71.9% and 90.0%, respectively). Winging scapular (87.5%), transverse smile (84.4%), Beevor's sign (68.8%), and sleeping with eyes opened (59.4%) were clinically important signs. There was a significant negative correlation between repeat size and clinical severity (r=-0.38, p=0.03). CONCLUSIONS: Distinctive clinical characteristics of FSHD are descending progression and asymmetric distribution of the muscle weakness. Our results also confirmed that the severity of FSHD increases with decreasing D4Z4-repeat size.

Avaliação dos resultados da artrodese da articulação escapulotorácica no tratamento da escápula alada na distrofia fascioescapulumeral / Evaluation of scapulothoracic arthrodesis results in the treatment of winged scapula in facioscapulohumeral dystrophy

OBJETIVO: Avaliar a técnica cirúrgica da artrodese escapulotorácica na distrofia fascioescapulumeral (DFEU), analisando os resultados e as complicações pós-operatórias. MÉTODOS: No período de fevereiro de 1992 a fevereiro de 2006 foram realizadas oito artrodeses escapulotorácicas em cinco pacientes no Departamento de Ortopedia e Traumatologia da Faculdade de Ciências Médicas da Santa Casa de São Paulo (DOT-FCM-SCSP). Os critérios para indicação cirúrgica foram: dor, déficit funcional do membro acometido, fadiga muscular e deformidade estética. Na técnica cirúrgica empregada para a artrodese foi realizada a fixação da escápula à parede torácica por meio de amarrilho com fios de poliéster n° 5, uma placa metálica estreita e fina, além de colocação de enxerto esponjoso autólogo. RESULTADOS: O seguimento médio dos pacientes foi de 124 meses. Na comparação da amplitude de movimentos pré e pós-operatórios, notou-se melhora na elevação, mantida a rotação lateral, com o UCLA no período pré-operatório variando de 7 a 11 e pós-operatório de 29 a 33. Dentre as complicações, encontraram-se dois casos de pneumotórax, um caso de soltura do material de síntese e um caso de ausência de consolidação óssea. COMENTÁRIO: Obtida consolidação da artrodese em seis casos, além da melhora da dor e elevação. Dois casos foram reoperados, sendo um devido à quebra do material e o outro, à não consolidação. Todos evoluíram para consolidação.

OBJECTIVE: To evaluate the surgical scapulothoracic arthrodesis technique in facioscapulohumeral dystrophy (FSHD) by analyzing post-op results and complications. METHODS: from February 1992 to February 2006, eight scapulothoracic arthrodesis procedures were performed in five patients at the Orthopedics and Traumatology Department of the Medical Sciences School at the Santa Casa Hospital of São Paulo (DOT-FCM-SCSP). The criteria for surgical indication were pain, functional deficit of the limb involved, muscular fatigue, and esthetic deformity. The surgical technique used for the arthrodesis fixated the scapula to the thoracic wall by tying a narrow, slim plate with No. 5 polyester threads and placing an autologous cancellous bone graft. RESULTS: Mean follow-up of the patients was of 124 months. Comparing the range of movement before and after surgery, the authors observed an improvement in raising, lateral rotation being kept, with the pre-op UCLA ranging from 7 to 11, and the post-op UCLA ranging from 29 to 33. Complications included two cases of pneumothorax; one case of the detachment of synthesis material, and one case of lack of bone fusion. COMMENT: Arthrodesis fusion was achieved in six cases, besides improvement in pain and raising. Two cases were reoperated on, one of them due to breakage of the material and another one due to lack of fusion. All cases evolved on to fusion.

Early-Onset Facioscapulohumeral Muscular Dystrophy: Significance of Pelvic Extensor in Sagittal Spinal Imbalance / 대한정형외과학회잡지

An 11-year-old girl with early-onset facioscapulohumeral muscular dystrophy (FSHD) presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt and hip flexion were markedly increased as determined by gait analysis. This FSHD case is an impressive example of a patient demonstrating the concept that weak pelvic extensor muscles cannot keep the spine upright and balanced. The most important factor in the development of hyperlordosis is the weakness of the pelvic extensor muscles, and the results of gait analysis exquisitely explain the pathophysiology. The patient stands with her spine hyperextended to maintain upright posture by a compensatory mechanism of relatively strong back extensor muscles. Corrective surgery for lumbar hyperlordosis was not considered as it could eliminate the compensatory lumbar hyperextension, thus making the spine of the patient stoop forward through the hip joint during walking, being caused by the weakness of her pelvic extensor muscles.

Facioscapulohumeral Muscular Dystrophy Confirmedby D4Z4 Analysis

No abstract available.

Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most common muscular dystrophy in adulthood, there were few reports on the genetically confirmed patients in Korea. Recently, we experienced four Korean patients with clinical features resembling FSHD. In order to confirm the diagnosis, conventional Southern blot (SB) analysis by using double digestion with EcoRI and BlnI and hybridization with p13E-11 probe was performed in three patients and newly developed long polymerase chain reaction (PCR) method was used for one patient because genomic DNA was not enough for conventional SB for this patient. All patients were demonstrated to have shortened D4Z4 repeats that were consistent with FSHD. Therefore, we could confirm the diagnosis of FSHD in four Korean patients and appropriate genetic counseling was done for the patients and their families. It is of note that long-PCR method could be a good alternative for conventional SB when D4Z4 repeats were less than 5.

Analysis of alleles 4qA and 4qB of the chromosome 4q subtelomere in Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze two alleles (4qA and 4qB) distal to D4Z4 of the 4q subtelomere in Chinese population, and to elucidate the interrelationship between these variants of 4qter and facioscapulohumeral muscular dystrophy (FSHD).</p><p><b>METHODS</b>Eighty unrelated healthy individuals from a random Chinese Han population were investigated. The genomic DNA was extracted from peripheral blood lymphocytes according to the specific procedure designed to minimize DNA shearing, then digested with EcoRI, HindIII or double digested with EcoRI and BlnI. The cleaved DNA was separated by pulsed field gel electrophoresis (PFGE) and Southern blotting with the probes p13E-11, 4qA and 4qB. The sizes of 4q35 EcoRI/4qA and EcoRI/4qB arrays were obtained by "curve fitting", and the frequencies of alleles and genotypes were calculated. Data were analyzed using a commercially available statistical package (Version 13.0 SPSS).</p><p><b>RESULTS</b>In normal individuals, frequencies of 4qA and 4qB alleles (46.9% and 53.1%) were observed of no significant difference (chi(2) = 1.250, P>0.05). The frequency of 4qA/4qB heterozygote was much higher than that of homozygote (P<0.05). The means of EcoRI/4qA and EcoRI/ 4qB arrays (115.8+/-11.9 kb and 98.3+/-8.6 kb) were of significant difference (t=23.04, P<0.001). 8.8% (7/80) of the individuals displayed a translocation repeat array configuration. 4qB-type EcoRI arrays smaller than 35 kb were found in two individuals.</p><p><b>CONCLUSION</b>The structural polymorphism of 4qA/4qB alleles within 4q35 and 10q26 is confirmed using PFGE in normal Chinese Han population. Although both alleles are almost equally common, shorten 4qB-type EcoRI fragment is not pathogenic. The frequency of 4qA/4qB heterozygote is significantly higher than that of homozygote.</p>

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the D4Z4 repeats on chromosome 4q35 in normal individuals in Shanghai and analysis the polymorphism of the D4Z4 locus.</p><p><b>METHODS</b>The length of D4Z4 repeats on chromosome 4q35 in 191 normal individuals in Shanghai was determined by pulsed-field gel electrophoresis and Southern blotting after double digestion with Eco RI and Bln I. The number of short D4Z4 repeats was counted after partial digestion with Kpn I.</p><p><b>RESULTS</b>Among 191 normal individuals in Shanghai, seventeen showed the size of D4Z4 fragments ranged from 22 to 34 kb, i.e. 8.9% of individuals had fewer numbers of D4Z4 repeats. Of these 17 individuals, sixteen showed the short D4Z4 fragment on chromosome 4q35, and one low D4Z4 fragment was correlated to 4q35--> 10q26 translocation.</p><p><b>CONCLUSION</b>The frequency of individuals having fewer numbers of D4Z4 repeats on chromosome 4q35 in Shanghai population is higher than that in Caucasian population although the short D4Z4 fragment on chromosome 4q35 is associated with facioscapulohumeral muscular dystrophy. These findings suggest that other factors may also contribute to facioscapulohumeral muscular dystrophy.</p>

Association of schizophrenia and mental retardation with facio-scapulohumeral muscular dystrophy.

Three members of an Indian family with facio scapulohumeral dystrophy (FSHD linked to chromosome 4q35 with short EcoR1 segment of 23 Kb are reported where two male adults had schizophrenia. One family member developed isolated facial weakness with mild mental retardation. This genetically proven FSHD family is reported because of its uncommon associations.

Study on EcoR I fragment polymorphism of the subtelomeric domains within 4q35 and 10q26 with pulsed field gel electrophoresis in the Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To elucidate the structural polymorphism of EcoR I fragment within chromosomes 4q35 and 10q26 in the Chinese population and investigate the relationship of plasticity, translocation and somatic mosaicism in these domains with deletion of D4Z4 repeated units.</p><p><b>METHODS</b>One hundred and ten unrelated healthy individuals from a random Chinese population were investigated. The genomic DNA was extracted from peripheral blood lymphocytes according to the specific procedure designed to minimize DNA shearing, then digested with EcoR I or double digested with EcoR I and Bln I. The cleaved DNA was separated by pulsed field gel electrophoresis (PFGE) and Southern blotted with the probe p13E-11. The sizes of EcoR I fragments were calculated by "curve fitting" according to the MidRange PFG marker and the alleles were assigned to their respective chromosomes based on their Bln I sensitivity. Data were analyzed using a commercially available statistical package (Version 11.0 SPSS).</p><p><b>RESULTS</b>Seventy-seven point three per cent (85/110) of the unrelated healthy individuals displayed a standard configuration distribution. The mean and median of 4q35 repeat arrays are (87.9+/-3.3) kb and 78.5 kb respectively, whereas the mean and median of 10q26 homologous arrays are (90.1+/-4.1) kb and 73.0 kb. Repeat size distributions between both of them were of no significance according to the t test (P>0.05). 19.1% (21/110) of the individuals displayed a translocation repeat array configuration on chromosomes 4 and 10. No significant difference was detected between 4q-->10q translocation and 10q-->4q translocation according to Chisquare test (Chi2 test=0.053, P>0.05). Somatic mosaicism was observed in 3.6% (4/110) of the subjects and less than 35 kb 10-type array was found in 14.5% (16/110) of the individuals.</p><p><b>CONCLUSION</b>The structural polymorphism and dynamic behaviors of EcoR I fragments within 4q35 and 10q26 were demonstrated in this study using PFGE. The occurrence of frequent translocations and somatic mosaicism between 4q35 and 10q26 subtelomeric domains in the Chinese population further confirmed that mitotic interchromosomal gene conversion or translocation might be a major mechanism relating to the deletion of D4Z4 units.</p>

Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To increase the sensitivity and specificity of conventional gene diagnosis of facioscapulohumeral muscular dystrophy 1A(FSHD1A) by analyzing the distribution of translocation between chromosomes 4q35 and 10q26 in suspected FSHD cases.</p><p><b>METHODS</b>The Bgl II- Bln I dosage test was performed to detect translocation between chromosomes 4q35 and 10q26 in 7 cases of presymptomatic FSHD patients showing positive result in gene diagnosis and 5 cases of sporadic FSHD patients showing negative result in gene diagnosis. DNA samples were digested with Bgl II and Bln I, followed by agrose gel electrophoresis. Probe p13E-11 was labeled with alpha-(32) P dCTP, followed by Southern hybridization. Then the ratio between the chromosomes 4 and 10 derived signal intensities was judged and hence was made known whether there was interchromosomal translocation between chromosomes 4 and 10.</p><p><b>RESULTS</b>The Bgl II-Bln I dosage test revealed a translocation from chromosome 4q35 to 10q26 in one presymptomatic FSHD patient, thus indicating the result of gene diagnosis for her might be false positive. There was one translocation from chromosome 10q26 to 4q35 detected in one sporadic FSHD patient, indicating the result of gene diagnosis for her might be false negative. There were no translocations between chromosomes 4 and 10 in the other 10 cases.</p><p><b>CONCLUSION</b>The Bgl II-Bln I dosage test can detect the translocation between chromosomes 4q35 and 10q26. It can improve the accuracy of the conventional method for gene diagnosis of FSHD1A.</p>

Translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the distribution of translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy (FSHD) patients and normal individuals.</p><p><b>METHODS</b>The Bgl II-Bln I dosage test was performed to study the distribution of translocation between chromosomes 4q35 and 10q26 in 70 cases of FSHD patients, 55 cases of kindred with FSHD, and 52 cases of normal controls.</p><p><b>RESULTS</b>(1) In normal individuals, the frequency of translocation between chromosomes 4q35 and 10q26 is 19.23%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are both 9.62%. (2) In the FSHD patients, the frequency of translocation between chromosomes 4q35 and 10q26 is 18.57%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are 12.86% and 5.71% respectively.</p><p><b>CONCLUSIONS</b>The translocation between chromosomes 4q35 and 10q26 was frequently observed in both normal Chinese population and FSHD patients. No significant difference was observed between them.</p>

Gene diagnosis of facioscapulohumeral muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).</p><p><b>METHODS</b>Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb.</p><p><b>RESULTS</b>In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb.</p><p><b>CONCLUSION</b>It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.</p>

Dystrophin detection by immunofluorescent technique for diagnosing muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy.</p><p><b>METHODS</b>Forty-seven cases were detected by immunofluorescence technique for analyzing dystrophin located in skeletal muscle cell membrane with the use of mouse monoclonal antibodies, goat and rabbit polyclonal antibodies.</p><p><b>RESULTS</b>The normal individuals showed ringed positive staining stripe around muscle fibers. Negative result of staining was seen in 16 DMD patients. Eleven BMD patients had discontinuous or a patchy positive staining pattern, and all of 10 FSHD and 10 neurological amyotrophic patients showed positive dystrophin staining.</p><p><b>CONCLUSION</b>Detecting dystrophin in the skeletal muscle cell membrane of muscular patients is an efficient technique for diagnosing and classifying various types of muscular dystrophy.</p>

Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoR I and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.