Two eminently treatable genetic metabolic myopathies
نویسندگان
چکیده
منابع مشابه
Two eminently treatable genetic metabolic myopathies.
Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe...
متن کاملAn Eminently Treatable Dropped Head Syndrome
Annals of Indian Academy of Neurology ¦ Volume 20 ¦ Issue 2 ¦ April-June 2017 172 J Neurosurg 2010;113:388-93. 10. Lam EM, Worrell GA, Laughlin RS. Semiology of the rare seizure subtype piloerection. Arch Neurol 2010;67:1524-7. 11. Haykal MA, Abou-Khalil B. Pilomotor seizures: A video case report. Epileptic Disord 2012;14:76-9. 12. Kurita T, Sakurai K, Takeda Y, Kusumi I. Pilomotor seizures in ...
متن کاملMetabolic myopathies.
PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...
متن کاملmetabolic myopathies
metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...
متن کاملA diagnostic algorithm for metabolic myopathies.
Metabolic myopathies comprise a clinically and etiologically diverse group of disorders caused by defects in cellular energy metabolism, including the breakdown of carbohydrates and fatty acids to generate adenosine triphosphate, predominantly through mitochondrial oxidative phosphorylation. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology India
سال: 2008
ISSN: 0028-3886
DOI: 10.4103/0028-3886.43452