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17 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Lactate Dehydrogenase Increased, Muscular Atrophy

  • Amyotrophic Lateral Sclerosis

    For example, NSC-34 cells treated with CSF from patients with ALS exhibited decreased cell viability and increased lactate dehydrogenase activity [ 48 ], suggesting that factors[doi.org] The patients were a 54-year-old man with progressive muscular atrophy who underwent removal of internal fixators in the arm and leg, and a 66-year-old woman with amyotrophic[ncbi.nlm.nih.gov] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org]

  • Progressive Muscular Atrophy

    The name "spinal muscular atrophy" is ambiguous as it refers to any of various spinal muscular atrophies, including the autosomal recessive spinal muscular atrophy caused[en.wikipedia.org] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info]

  • Spinal and Bulbar Muscular Atrophy

    […] in CK, aspartate aminotransferase, alanine aminotransferase and lactate dehydrogenase.[doi.org] KEYWORDS: CAG/polyglutamine expansion; androgen receptor; neuromuscular disease; spinal and bulbar muscular atrophy; testosterone[ncbi.nlm.nih.gov] Abstract Spinal and bulbar muscular atrophy (SBMA) is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy[ncbi.nlm.nih.gov]

  • Distal Spinal Muscular Atrophy Type 3

    Blood investigations revealed normal creatinine phosphokinase and lactate dehydrogenase.[cags.org.ae] Homepage Rare diseases Search Search for a rare disease X-linked distal spinal muscular atrophy type 3 Disease definition X-linked distal spinal muscular atrophy type 3 is[orpha.net] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info]

  • Myoadenylate Deaminase Deficiency

    Ischemic exercise failed to increase the blood ammonia, while lactate increased normally.[ncbi.nlm.nih.gov] The diagnoses in the 13 patients were: polyneuropathy (n 5), infantile spinal muscular atrophy (n 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy[ncbi.nlm.nih.gov] She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.[ncbi.nlm.nih.gov]

  • Polyglucosan Body Myopathy Type 2

    Phosphofructokinase Deficiency caused by mutations in the PFKM gene Phosphoglycerate kinase deficiency X-linked Muscle Lactate Dehydrogenase Deficiency (LDH) deficiency is[sites.google.com] , AD, 158600 UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 CHCHD10 Spinal muscular atrophy,Jokela type, 615048 TRPV4 Spondylometaphyseal dysplasia, Kozlowski[gsdseq.ir] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

  • Distal Myopathy Type 3

    Phosphofructokinase Deficiency caused by mutations in the PFKM gene Phosphoglycerate kinase deficiency X-linked Muscle Lactate Dehydrogenase Deficiency (LDH) deficiency is[sites.google.com] Marked facial weakness is observed in these patients with congenital myopathies. [2] Spinal Muscular Atrophy Distal spinal muscular atrophy is an autosomal recessive infantile[explainmedicine.com] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

  • Autosomal Dominant Myoglobinuria

    Moses GC, Henderson AR (1987) Increased serum lactate dehydrogenase isoenzyme 1 and “flipped” LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase[link.springer.com] He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.de] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Congenital Myopathy with Excess of Thin Filaments

    Phosphofructokinase Deficiency caused by mutations in the PFKM gene Phosphoglycerate kinase deficiency X-linked Muscle Lactate Dehydrogenase Deficiency (LDH) deficiency is[sites.google.com] What is SMARD1 (spinal muscular atrophy, distal, autosomal recessive, 1 due to?[brainscape.com] Over time, muscle weakness progresses to proximal muscle groups.[genecards.org]

  • Proximal Myopathy with Extrapyramidal Signs

    Frequency not reported : ALT increased, AST increased Postmarketing reports : Cholestatic hepatitis, cholestasis, jaundice, alkaline phosphatase increased, blood lactate[drugs.com] Spinal muscular atrophy The clinical picture of spinal muscular atrophy (SMA) is highly variable and represents a continuum.[emedicine.medscape.com] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

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