Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004093 (asthenia)
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Data were collected prospectively over a 10-yr period from 53 subjects with facioscapulohumeral muscular dystrophy (FSHD) to provide a profile of impairment and disability. Manual muscle testing (MMT) indicated greater involvement of proximal musculature, although a subgroup demonstrated early weakness of the ankle dorsiflexors. Asymmetry of upper extremity musculature was noted, with greater weakness of selected dominant limb muscle groups. Weakness, in general, was relatively mild, with an overall mean MMT score of 3.7 units. The rate of strength loss was quite slowly progressive, a decline of only -0.22 MMT units per decade of age. An early age of onset was associated with greater likelihood of more severe and progressive weakness. Isometric and isokinetic quantitative strength testing revealed that all muscle groups were 36-68% weaker than a control population. Although nearly 50% of the subjects had vital capacity evidence of restrictive lung disease, only 13% had severe involvement, and only 22% had a history of pulmonary complications. There was no age or disease duration effect on pulmonary function measurements or complications. As with the other neuromuscular diseases, maximal expiratory pressure measurements were more sensitive than other pulmonary function tests. Abnormal electrocardiogram findings were rare and minor and not related to overt cardiac disease. Contractures were rare and mild. Thirty-five percent of the patients had spine deformity; however, most had hyperlordosis. Intellectual function was normal, and there were few abnormalities on personality tests. Functional testing demonstrated wide variation in disability with FSHD, but motor weakness uniformly translated into impaired motor performance skills. This profile demonstrates the clinical heterogeneity of FSHD.
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PMID:Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. 757 20

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 and related tripping are common problems in FSHD, gait impairments are poorly documented. The effect of ankle plantarflexor involvement on gait propulsion has never been addressed. In addition to ankle plantarflexion, gait propulsion is generated through hip flexion and hip extension. Compensatory shifts between these propulsion sources occur when specific muscles are affected. Such a shift may be expected in patients with FSHD since the calves may show early fatty infiltration, whereas iliopsoas and gluteus maximus muscles are often spared for a longer time. In the current study, magnetic resonance imaging was used to assess the percentage of unaffected calf, iliopsoas and gluteus maximus muscles. Joint powers were analyzed in 10 patients with FSHD at comfortable and maximum walking speed to determine the contribution of ankle plantarflexor, hip flexor and hip extensor power to propulsion. Associations between muscle morphology, power generation and gait speed were assessed. Based on multivariate regression analysis, ankle plantarflexor power was the only factor that uniquely contributed to the explained variance of comfortable (R(2)=80%) and maximum (R(2)=86%) walking speed. Although the iliopsoas muscles were largely unaffected, they appeared to be sub-maximally recruited. This submaximal recruitment may be related to poor trunk stability, resulting in a disproportionate effect of calf muscle affliction on gait speed in patients with FSHD.
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PMID:Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. 2568 33

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant incurable skeletal muscle disease. FSHD1 constitutes 95% of cases and is linked to truncation of the D4Z4 macrosatellite at 4q35. In most cases the condition initially presents with facial and proximal weakness of the upper limbs, but over the course of the disease involves lower limb and truncal muscles. Weakness is progressive and frequently asymmetric, which is a hallmark of the disease. Here we performed an analysis of 643 FSHD1 patients in the UK FSHD patient registry, investigating factors affecting rate of onset of 5 major FSHD symptoms: facial, periscapular, foot dorsiflexor, hip girdle weakness, and hearing loss. We found shorter D4Z4 repeat length associated with accelerated onset of each symptom. Furthermore, paternal inheritance of the pathogenic allele was associated with accelerated onset of foot dorsiflexor weakness, while pregnancy and carrying multiple children to term was associated with slower onset of all muscle symptoms. Lastly, we performed clustering analysis on age of onset of the 4 muscle symptoms across 222 patients. We identified 4 clinical presentations of FSHD1. A classical presentation (74%) and 3 facial sparing phenotypes: a mild presentation (5%) with later facial and periscapular involvement, an early shoulder presentation (10%) with accelerated periscapular weakness and an early foot presentation (9%) with accelerated foot dorsiflexor weakness. The mild presentation was associated with longer D4Z4 repeat lengths, while the early foot presentation had a female bias. We note, however that symptom progression differs significantly in these 4 clinical presentations independently of D4Z4 repeat length and gender, motivating investigation of further modifiers of FSHD1 severity.
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PMID:Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. 3232 87