pain and a 69-year-old with persistently increased serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms. [bio2rdf.org]

Systemic Amyloidotic Polyneuropathy, Cardiac or Denmark Type Amyloidotic Polyneuropathy, German-American Type Andermann Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Anderson Disease Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome, Infertility [sequencing.com]

Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016. [books.google.com]

We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. [ncbi.nlm.nih.gov]

A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis. Neurologic examination and EMG were normal. [pubfacts.com]

Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. [experts.umich.edu]

Conclusion: Although the clinical manifestations of PGAMD mimic McArdle disease with respect to the presence of exertional muscle cramps, rhabdomyolysis, and myoglobinuria, this study shows that cycle exercise responses are strikingly different. [utsouthwestern.influuent.utsystem.edu]

Clinical features may include hepatomegaly, hypoglycemia, muscle cramps, exercise intolerance, and progressive fatigue and weakness. Preliminary biochemical testing may be helpful in making a diagnosis. [sjhbangorlab.testcatalog.org]

He reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. [bio2rdf.org]

This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals. [ghr.nlm.nih.gov]

1 (PFK-1), Tauri's disease Type VII: Most prevalent in Ashkenazi Jews and Japanese Like Type V, but also with hemolytic anemia due to PFK-1 McArdle’s Disease enzyme Muscle Glycogen Phosphorylase Limited ability to perform strenuous exercise, muscle cramping [quia.com]

Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. [ncbi.nlm.nih.gov]

Muscle contractures do not occur after ischemic exercise. Numerous episodes of supraventricular tachycardia occurred in an infant with Thomson's disease. [euroformhealthcare.biz]

Prolonged muscle spasm (muscle contracture) is not uncommon and can lead to RM. [ojrd.biomedcentral.com]

Muscle biopsy revealed subsarcolemmal collections suggestive of tubular aggregates. Phosphoglycerate mutase activity was 8% of the reference value. [ncbi.nlm.nih.gov]

Gomori-trichome and NADH showed subsarcolemmal depositions (0.01% of the fibres) suggesting tubular aggregates (Fig. 1 ). PGAM activity in muscle homogenate [ 4 ] was moderately reduced (141 U/g wet weight, normal 332 88). [link.springer.com]

There was a normal increase in serum lactate in the forearm ischemic exercise test, suggesting a discrepancy in glycogen breakdown impairment during anaerobic and aerobic exercise in PHK deficiency that may result from different activation pathways for [bio2rdf.org]

Frequently, symptoms suggesting polymyositis or late-onset muscular dystrophy cause confusion in the initial clinical diagnosis. Three types of debrancher deficiency syndrome have been identified: infantile, childhood, and adult. [euroformhealthcare.biz]

Androgen (DHEA) Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II Deficiency of Factor XIII, A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis [sequencing.com]

Fibrosis of Extraocular Muscles Duane Retraction Syndrome Duane Radial Ray Syndrome Mobius Syndrome Brown Syndrome Marcus Gunn Syndrome Strabismus Congenital Horizontal Gaze Palsy Horizontal Gaze Palsy With Progressive Scoliosis Facial Palsy Facial Paresis [mitoaction.org]

Over the subsequent 8 years, he had slowly progressive weakness of the pelvic girdle muscles without pyramidal or cerebellar signs. [bio2rdf.org]