musculoskeletal abnormalities/asthenia

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Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities.

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Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on

Acquired fanconi syndrome induced by mixed Chinese herbs presenting as proximal muscle weakness.

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We report a rare case with acquired Fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy. From a series of investigations, proximal renal tubule injury with functional defects and Chinese herb nephropathy were discovered.

Peripheral muscle weakness in RASopathies.

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BACKGROUND RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the

Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report.

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Mannosidosis is an extremely rare genetic disease occurring due to deficiency of the lysosomal enzyme, alpha-mannosidase. Patients with this disorder often suffer from musculoskeletal abnormalities and muscular weakness leading to joint destruction and severe morbidity along with other major systems

Preliminary evidence that low ankle-brachial index is associated with reduced bilateral hip extensor strength and functional mobility in peripheral arterial disease.

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OBJECTIVE Peripheral arterial disease (PAD) has been associated with skeletal muscle pathology, including atrophy of the affected muscles. In addition, oxidative metabolism is impaired, muscle function is reduced, and gait and mobility are restricted. We hypothesized that greater severity of

Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome.

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Cardiofaciocutaneous (CFC) syndrome is a rare condition characterized by congenital heart disease, craniofacial dysmorphology, and dermatological abnormalities. CFC syndrome is one of the RASopathies, a family of syndromes that also includes Noonan and Costello syndromes, all with underlying gene

A study of a family with inherited disease of cardiac and skeletal muscle. Part I. Clinical, electrocardiographic, echocardiographic, haemodynamic, electrophysiological and electron microscopic studies.

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A family consisting of parents and their 6 sons were investigated to elucidate the relationship between a hypertrophic cardiomyopathy, musculoskeletal abnormalities and mental subnormality. The proband was diagnosed as having definite hypertrophic obstructive cardiomyopathy and the remaining family

Sprengel's Deformity Associated with Musculoskeletal Dysfunctions and Renal Anomalies: A Case Report.

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Background. Sprengel's deformity is a rare congenital anomaly of the shoulder girdle. The deformity is due to failure of descent of the scapula in intrauterine life. Case Presentation. We report a case of unilateral Sprengel's deformity associated with several other musculoskeletal and renal

Malignant hyperthermia and central core disease in a child with congenital dislocating hips.

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We describe a development of a malignant hyperthermia (MH) syndrome, partially aborted by therapy, in a child with central core disease and congenital dislocating hips. Patients with central core disease appear to be more susceptible to MH; possibly those with elevated serum creatine phosphokinase

Multiple endocrine neoplasia with skeletal manifestations.

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There are three types of familial multiple endocrine neoplasia, but type 2b, which is characterized by medullary thyroid carcinoma, pheochromocytoma, and ganglioneuromatosis, is the only one in which patients also have skeletal anomalies. These musculoskeletal abnormalities include marfanoid

Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.

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Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a young girl with a

Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias.

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OBJECTIVE To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias. METHODS A retrospective chart review analysis was conducted on 167 patients evaluated in neurology outpatient clinics for ataxia or ataxia-related symptoms. The

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

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CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known to exist, but the full spectrum of phenotypes

Sprengel's deformity: association with musculoskeletal dysfunctions and tethered cord syndrome.

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Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other congenital anomalies, such as congenital scoliosis, fusion of cervical vertebrae, and conditions like Klippel-Feil syndrome may

Gait performance and foot pressure distribution during wearable robot-assisted gait in elderly adults.

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BACKGROUND A robotic exoskeleton device is an intelligent system designed to improve gait performance and quality of life for the wearer. Robotic technology has developed rapidly in recent years, and several robot-assisted gait devices were developed to enhance gait function and activities of daily

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