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1/10. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy.

    Hirayama's disease (HD) is frequently found in asia, and is rarely referred among westerners. It affects young people with higher incidence in males. It is a focal distal amyotrophy with unilateral or asymmetric bilateral involvement of C7, C8 and T1 innervated muscles. HD appears sporadically and has a benign evolution with clinical stabilization in around one year. We report four young male patients with clinical and electrophysiological alterations described in HD, which were followed-up during 5 years. Electromyographic findings were indicative of lower motor neuron involvement. We analyzed cervical MRI aiming at understanding if a questionable spinal cord compression could be implicated in the pathogenesis, but no abnormality was verified. In view of its clinical, and EMG characteristics, HD is no more than a benign monomelic amyotrophy (BMA) clinical variant, and not a specific disease. This eponym could be considered only for the distal upper limb variant (Hirayama's variant) of the BMA.
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2/10. Distal spinal muscular atrophy of upper limb (Hirayama disease) associated with high serum lead levels.

    Hirayama disease causes unilateral or asymmetrical bilateral distal weakness and atrophy of upper limbs. We report a 6 1/2-year-old female with Hirayama disease and associated high serum lead levels. This report highlights the occurrence of this condition in younger children and the need to further study the role of lead in its pathophysiology.
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3/10. Prevention of pectus excavatum for children with spinal muscular atrophy type 1.

    To demonstrate the elimination of pectus excavatum and promotion of more normal lung growth and chest wall development by the use of high-span positive inspiratory pressure plus positive end-expiratory pressure (PIP PEEP), patients with spinal muscular atrophy type 1 with paradoxical breathing were placed on high-span PIP PEEP when sleeping from the point of diagnosis of spinal muscular atrophy. Although the appearance of pectus excavatum is ubiquitous in untreated infants with spinal muscular atrophy type 1, after institution of high-span PIP PEEP, pectus resolves and lungs and chest walls grow more normally. High-span PIP PEEP is indicated for all infants diagnosed with spinal muscular atrophy who demonstrate paradoxical breathing for the purpose of promoting more normal lung and chest development.
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ranking = 19.693195627263
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4/10. Advanced Hirayama disease with successful improvement of activities of daily living by operative reconstruction.

    Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is a benign and non-progressive motor neuron disease. Application of a cervical collar is believed to prevent progression of symptoms in the early stages, but there is no effective therapy for the advanced disease. We found that tendon transfer improved the activities of daily living (ADL) of a patient with advanced Hirayama disease. An operative reconstruction can be valuable, even in patients with Hirayama disease who have developed impaired ADL due to extensive intrinsic hand muscle atrophy.
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5/10. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

    We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Disease onset was in the first 2 months in the described patients, starting with generalised hypotonia, failure to thrive, and early breathing difficulties. Diaphragmatic palsy was diagnosed and permanent ventilation was initiated 2-8 months after onset. Within months a more distal muscular atrophy became evident associated with joint contractures (talipes), hand drops, and fatty finger pads. Motor development remained minimal, loss of function was observed within the first year after which no further progression was recorded. Voiding dysfunction with reflux nephropathy was observed in 3 patients and has not been reported before. Further evidence of autonomic nerve dysfunction resulting in cardiac arrhythmia, hypertension, and excessive sweating was given in 2 patients. Investigative results were largely compatible with those obtained in classic SMA. However, neurogenic atrophy muscle was more pronounced in distal muscles, if examined, and there was evidence of peripheral nerve involvement at least in some patients.
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6/10. A Korean case of juvenile muscular atrophy of distal upper extremity (Hirayama disease) with dynamic cervical cord compression.

    We present a Korean case of Hirayama disease with its typical neuroradiological findings of forward displacement of cervical dural sac and compression of the lower cervical cord during neck flexion. A 15-yr-old boy was presented with a one-year history of progressive weakness and atrophy affecting bilateral hands and forearms. The electrodiagnostic findings were compatible with the lesion of the anterior horn cells at the C7, C8, and T1 spinal segments. With neck flexion, cervical magnetic resonance imaging (MRI) showed the anterior shifting of the lower cervical dural sac resulting in the cord compression of those segments. Presumably, this disease might have been prevalent in korea frequently under the diagnosis of "benign focal amyotrophy". In this regard, we discuss the clinical importance of cervical MRI with neck flexion and anticipate the increasing reports of the case substantiated by its characteristic radiological features.
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7/10. Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure.

    A rare complication of possible secondary dilated cardiomyopathy to Kugelberg-Welander disease was described in a 53-year-old patient with this inherent motor neuron disease, whom we diagnosed after a genetic analysis of the defective survival motor neuron gene. An association of sleep disordered breathing of cheyne-stokes respiration was diagnosed, which was virtually eliminated with continuous positive airway pressure via nasal mask. Considering the paucity of therapeutic options in most degenerative neuromuscular disorders, ameliorations in not only sleep quality but also cardiac function with continuous positive airway pressure have clinical implications.
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ranking = 49.232989068159
keywords = breathing
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8/10. Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy.

    The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and by age 4 months was hypotonic and weak. electromyography revealed denervation in all extremity muscles, and nerve conduction velocities were normal but with small compound muscle action potentials. quadriceps muscle biopsy revealed many hypertrophied type II myofibers (myofibers with a mean least diameter of 25.4 microns). In contrast, the largest type I myofibers were 20 microns in least diameter (mean diameter, 14.9 microns), and there was a normal-size population of type II fibers (mean diameter, 15.7 microns). In addition, sheets of atrophic type I and type II fibers averaged 2.0 microns in least diameter. sural nerve biopsy was normal. Breathing difficulties progressed, with death ensuing at age 5 1/2 months. autopsy revealed atrophy of ventral spinal roots with normal dorsal roots. There was loss of anterior horn cells, while remnant neurons were reduced in size. No other pathologic changes were identified. This case indicates that in severe infantile spinal muscular atrophy, relative sparing of the motor units with type II myofibers may occur.
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keywords = breathing
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9/10. Prenatal activity of a fetus with early-onset, severe spinal muscular atrophy.

    A case of early-onset, severe spinal muscular atrophy is reported. Normal fetal breathing movement patterns and heart rate accelerations were observed in spite of the severe hypotonia evident at birth.
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keywords = breathing
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10/10. Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

    Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.
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