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830 Possible Causes for Generalized Dystonia, Muscle Weakness, Myopathy

  • Rhabdomyolysis

    A 71-year-old man was hospitalized because of muscle weakness of the lower limbs that persisted for 1 month.[] (2) Crush Injury and Trauma In crush injury and other forms of trauma, rhabdomyolysis is generally due to direct muscle injury and ischaemia.[] […] for patients with mitochondrial myopathies. 5 Conclusion Mitochondrial myopathies should be considered in patients presenting with recurrent muscle pain and elevation of[]

  • Amyotrophic Lateral Sclerosis Type 5

    ALS5 patients suffer from slowly progressive muscle weakness beginning in their limbs and spreading to the bulbar muscles.[] ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[] […] dementia, BSCL2 -related neurologic disorders, DCTN1 -related distal hereditary motor neuronopathy type VIIB, GBE1 -related adult polyglucosan body disease, and inclusion body myopathy[]

  • MELAS Syndrome

    Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures.[] ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[]

  • Writer's Cramp

    Side effects included mild and temporary muscle weakness and pain at the injection site.[] Two cases are reported in which simple writer's cramp turned into dystonic writer's cramp without progression to generalized dystonia.[] It uplifts the skeletal muscle weaknesses. The nerve tonic strengthens the physical durability. Overcome the mental pressure and nervous breakdowns.[]

  • Schwartz-Jampel Syndrome

    554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected[] Preoperative assessment Negative general anesthesia.[] […] autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36 myotonic myopathy[]

  • Kearns-Sayre Syndrome

    His manifestations included progressive external ophthalmoplegia, bilateral ptosis, retinitis pigmentosa, and muscle weakness.[] Have been reported other uncommon associations such as: focal and generalized dystonia with deletion of 5.9 kb from mtDNA 22, Toni-Debre-Fanconi syndrome with focal deficiency[] The syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration, and severe generalized myopathy.[]

  • Idiopathic Camptocormia

    Limb muscles: Minor or Non-diagnostic changes Differential diagnosis: Other causes of paraspinous muscle weakness Scoliosis: Adolescent Idiopathic Definition Lateral spinal[] […] was a case of generalized dystonia with camptocormia.[] The cause of camptocormia in idiopathic PD is a focal myopathy.[]

  • Myoglobinuria

    The patient had proximal muscle weakness and tenderness, markedly raised muscle enzymes and deranged renal functions that normalised with thyroid replacement therapy.[] We studied an 8-year-old boy of non-Jewish, Mexican-American descent with autosomal-dominant dystonia musculorum deformans who developed rapidly progressive and severe generalized[] We report on a 23-year-old man in whom recurrent myoglobinuria was observed due to necrotizing vacuolar myopathy confirmed on muscle biopsy.[]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    As a result, patients present at an early age with muscle weakness, failure to thrive, developmental delay, hypotonia, seizures, and metabolic acidosis.[] […] encephalopathy Mitochondrial respiratory chain defects Jamaican vomiting sickness Infant onset Clinical Failure to thrive Developmental delay Hypotonia CNS: Seizures (22%); Dystonia[] To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy.[]

  • Autosomal Recessive Centronuclear Myopathy

    The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness.[] […] hypotonia NA Y N Seizures NA Y N Ataxia NA Y N Dystonia NA Y N Chorea NA Y N Spasticity NA Y N Spinal dysraphism NA Y N Morphological abnormality of the central nervous system[] Centronuclear myopathy Source: GARD (NIH) 1 • • • Back to: « Autosomal recessive centronuclear myopathy Source: GARD (NIH) 2 • • • Synonyms Centronuclear Myopathy 2 ; MYOTUBULAR[]

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