No abstract available.
Muscular Dystrophy, Facioscapulohumeral

No abstract available.
Muscular Dystrophy, Facioscapulohumeral*

Humans ; Muscular Dystrophy, Facioscapulohumeral ; Neurodegenerative Diseases ; Neurology ; Research ; Spinocerebellar Ataxias

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.
Contracts ; Eye ; Facial Muscles ; Genotype ; Humans ; Muscle Weakness ; Muscles ; Muscular Dystrophies ; Muscular Dystrophy, Facioscapulohumeral ; Phenotype ; Shoulder

Many patients who have facioscapulohumeral muscular dystrophy eventually have instability of the scapula due to weakness of the muscles which stabilize the scapula. However, a subset of these patients have sufficient strength in the supraspinatus and deltoid muscle to abduct the arm if the scapula has been stabilized. In four patients who had facioscapulohumeral type of progressive muscular dystrophy, scapulothoracic arthrodesis was done for the treatment of limited unstable shoulder motion, especially flexion and abduction and symptomatic winging of the scapula caused by the loss of scapular stability from July 1994 to Feb.1995. The purpose of this study was to report 5 cases who obtained permanent stability after the scapulothoracic arthrodesis and compare the pre- and postoperative glenohumeral motion. The average preoperative active abduction was 74 degrees, which was improved to l35 degrees at the last follow up in 4 cases except unsatisfied 1 case. The average preoperative active flexion was 66 degrees, which improved to 140 degrees at last follow up. The average preoperative UCLA shoulder score was 18.4 points, which improved to 29.6 points at the last follow up. They were doing well in activity of daily living except unsatisfied one case. The scapulothoracic arthrodesis in the facioscapulohumeral type of the progressive muscular dystrophy is successful in achieving scapular stability so it is valuable for selected patients, as it improves appearance, enhances function, and increases tolerance to exercise.
Arm ; Arthrodesis* ; Deltoid Muscle ; Follow-Up Studies ; Humans ; Muscles ; Muscular Dystrophies* ; Muscular Dystrophy, Facioscapulohumeral ; Scapula ; Shoulder*

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.
Child ; Gait ; Hip ; Hip Joint ; Humans ; Muscles ; Muscular Dystrophy, Facioscapulohumeral ; Posture ; Spine ; Walking

Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral ; diagnosis ; genetics ; Pedigree ; Young Adult

Facioscapulohumeral muscular dystrophy (FSHD) is a genetically trarlsmitted benign muscular dystrophy which has autosomal dominant inheritance pattern. It starts anytime within the first 30 years of life, and usually involves the face and shoulder girdle, and finally the pelvic muscles with very slow progression. Authors-report a fanily consisting of a father, two sons and one daughter, who had suffered from exertional dyspnea, weakness of facial muscle and winged scapulae, all wlth a slow progressive course. Two of these patients were biopsied arld confirmed light microscopically and electron microsopically.
Dyspnea ; Facial Muscles ; Fathers ; Humans ; Inheritance Patterns ; Muscles ; Muscular Dystrophies ; Muscular Dystrophy, Facioscapulohumeral* ; Nuclear Family ; Scapula ; Shoulder

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; China ; DNA Methylation ; Female ; Humans ; Male ; Muscular Dystrophy, Facioscapulohumeral ; genetics ; Pedigree ; Young Adult

OBJECTIVETo establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy.

METHODSForty-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.

RESULTSThe 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.

CONCLUSIONDetecting dystrophin in the skeletal muscle cell membrane of muscular patients is an efficient technique for diagnosing and classifying various types of muscular dystrophy.

Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Dystrophin ; analysis ; Female ; Fluorescent Antibody Technique ; methods ; Humans ; Male ; Muscle, Skeletal ; chemistry ; pathology ; Muscular Dystrophies ; diagnosis ; metabolism ; Muscular Dystrophy, Duchenne ; diagnosis ; metabolism ; Muscular Dystrophy, Facioscapulohumeral ; diagnosis ; metabolism ; Neuromuscular Diseases ; diagnosis ; metabolism