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muscular dystrophy facioscapulohumeral/astenia
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Elderly onset of weakness in facioscapulohumeral muscular dystrophy.
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A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and
Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness.
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Facioscapulohumeral muscular dystrophy is a slowly progressive hereditary disorder resulting in fatty infiltration of eventually most skeletal muscles. Weakness of trunk and leg muscles causes problems with postural balance and gait, and is associated with an increased fall risk. Although drop foot
The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy.
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The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed),
Respiratory Muscle Weakness in Facioscapulohumeral Muscular Dystrophy.
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Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.
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OBJECTIVE
To investigate whether sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy (FSHD).
METHODS
Sarcomeric function was evaluated by contractile studies on demembranated single muscle fibers obtained from quadriceps muscle biopsies of 4 patients with
Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment.
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Only isolated prospective studies have attempted to chart the natural history of facioascapulohumeral muscular dystrophy (FSHD), a benign myopathy with notoriously variable clinical manifestations and progression. This 10-year prospective study was performed to document by simple clinical methods
A Case of Late-Onset Pompe Disease Occurring with a Muscle Weakness Pattern Similar to that of Facioscapulohumeral Muscular Dystrophy.
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Alveolar hypoventilation as an early symptom of muscle weakness in facioscapulohumeral muscular dystrophy.
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[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].
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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy characterized by progressive weakness and wasting of the facial, shoulder-girdle and upper arm muscles. The gene locus for FSHD is mapped to the subtelomeric region of chromosome 4q35, in which smaller
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.
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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual infantile-onset form of this degenerative disease, sensorineural hearing loss is a frequent clinical manifestation, whereas in patients with
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
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Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive primary disease of muscle which is usually inherited as an autosomal dominant disorder. FSHD has been localized to the long arm of chromosome 4, specifically to the 4q3.5-qter region. Initially published linkage studies showed no
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness. Most patients with FSHD carry a large deletion in the polymorphic D4Z4 macrosatellite repeat
Compound heterozygosity in a South African patient with facioscapulohumeral muscular dystrophy.
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Facioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35.
Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy.
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Two cases of early onset facioscapulohumeral muscular dystrophy (FSHD) with mental retardation and epilepsy are reported. They were sporadic, unrelated, severely affected females. In both cases, Southern blot analysis of the EcoRI-digested genomic DNA, using probes p13E-11 and pFR-1, detected the
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same
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