Asthenia & Creatine Kinase Normal or Increased & Vacuolization: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Asthenia, Creatine Kinase Normal or Increased, Vacuolization,

Negated

None

Unsure

None

Possible Causes

Oculo-Pharyngo-Distal Myopathy

Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes. [ncbi.nlm.nih.gov]

Thus, asthenia is not a myopathy. [clinicalgate.com]

Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. [ncbi.nlm.nih.gov]

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Inclusion Body Myositis

The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported. [ncbi.nlm.nih.gov]

Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500. [n.neurology.org]

She was exercising daily to increase muscle strength, despite an increased asthenia and difficulties in climbing and descending stairs, and she had some problems in swallowing [karger.com]

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Limb-Girdle Muscular Dystrophy

/pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7 [ncbi.nlm.nih.gov]

Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis. [doi.org]

In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. [patient.info]

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Distal Myopathy Type 3

Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm). [karger.com]

Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold. [orpha.net]

Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. [aafp.org]

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Sarcotubular Myopathy

The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity. [ncbi.nlm.nih.gov]

Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia. [slideshare.net]

Myriad small spaces appeared in abnormal fibers in the transverse sections, while in longitudinal sections the vacuolation was segmental in distribution. [mayoclinic.pure.elsevier.com]

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Limb-Girdle Muscular Dystrophy Type 1E

Pathologic findings in one of the patients showed rimmed vacuoles. [ncbi.nlm.nih.gov]

kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram [medbullets.com]

Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}. [genecards.org]

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Glycogen Storage Disease Type 2

At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable. [ncbi.nlm.nih.gov]

Creatine Kinase is measure of muscle destruction. Normally, an increase in lactate and increase ammonia. [youtube.com]

The clinical signs included: intolerance to exercise, asthenia, muscular weakness and episodes of rhabdomyolysis. [heighpubs.org]

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Secondary Myopathy

Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles [neurology.mhmedical.com]

In statin myopathies, the creatine kinase (CK) level may be normal or there may be asymptomatic CK increases. 8 With continued exposure to the toxin, the patient may develop [now.aapmr.org]

Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. [aafp.org]

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Limb-Girdle Muscular Dystrophy Type 1G

[…] membrane in the vacuoles. [doi.org]

Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. [mendelian.co]

Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}. [genecards.org]

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Myopathic Carnitine Deficiency

At the electron microscopic level, the predominant abnormality was the presence of lipid vacuoles between the myofibrils. [ncbi.nlm.nih.gov]

Serum creatine kinase was increased and muscle biopsy revealed a lipid storage myopathy affecting predominantly the type I fibres. [ncbi.nlm.nih.gov]

Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. [aafp.org]

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Hyaline Body Myopathy

Enzyme histochemistry or immunostaining for these sarcolemmal proteins demonstrate strikingly numerous cytoplasmic vacuoles in Danon disease and X-linked myopathy with excessive [basicmedicalkey.com]

In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant [rarediseases.org]

It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. [ncbi.nlm.nih.gov]

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Hyperkalemic Periodic Paralysis

Muscle biopsy specimens showed variability in fiber size, internal nuclei, and fibers with vacuoles. [ncbi.nlm.nih.gov]

Elevated serum creatine kinase (CK) concentration (sometimes 5-10x the normal range) Suggestive laboratory findings between attacks Normal serum potassium concentration and [ncbi.nlm.nih.gov]

He rapidly recovered from weakness after acetazolamide treatment. [ncbi.nlm.nih.gov]

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Polymyositis

KEYWORDS: anti-Ku antibody; dropped head syndrome; rimmed vacuole; scleroderma-polymyositis overlap syndrome [ncbi.nlm.nih.gov]

Laboratory tests detected increases in creatine kinase (CK) (1578U/L) and lactate dehydrogenase (LDH) (506U/L), although all other inflammatory parameters were normal. [reumatologiaclinica.org]

CASE REPORT A male patient, 37 years old, was admitted with signs of anasarca, progressive muscle weakness, dysphagia to solids, and development of asthenia for 45 days. [scielo.br]

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Acquired Amyloid Myopathy

Vacuoles rimmed with basophilic granules. Inclusion body myositis IBM. Vacuole filled with granules. Modified Gomori trichrome stain. Inclusion body myositis IBM. [neuropathology-web.org]

Sensory examination was normal. Serum creatine kinase (CK) was increased to 1200 IU/L (six times normal). [clinicalgate.com]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness [books.google.com]

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Facioscapulohumeral Muscular Dystrophy

Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, [ncbi.nlm.nih.gov]

Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. [ncbi.nlm.nih.gov]

Muscle weakness of the face is common, and may include: Eyelid drooping Inability to whistle due to weakness of the cheek muscles Decreased facial expression due to weakness [nlm.nih.gov]

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Muscular Dystrophy

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci, 1981; 51: 141–155. [link.springer.com]

Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold. [orpha.net]

Muscle weakness of the face is common, and may include: Eyelid drooping Inability to whistle due to weakness of the cheek muscles Decreased facial expression due to weakness [nlm.nih.gov]

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Polyglucosan Body Myopathy Type 2

DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy". [en.wikipedia.org]

normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22. [slideshare.net]

Skeletal muscle atrophy Limb-girdle muscle weakness Slow progression Variable expressivity ... [familydiagnosis.com]

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Childhood Dermatomyositis

Numerous dark-stained fibers and vacuoles were observed in periodic acid-Schiff (PAS) staining. [ijdvl.com]

[…] correlates with successful treatment); and (d) dynamic range (increases in creatine kinase with PM/DM are often 20–50 times normal). [rheumaknowledgy.com]

Prognosis Poor prognostic indicators include recalcitrant disease, delay in diagnosis, older age, malignancy, fever, asthenia-anorexia, pulmonary interstitial fibrosis, dysphagia [aafp.org]

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Familial Periodic Paralysis

Light microscopy showed multiple intra- and extracellular vacuoles, rimmed vacuoles, myonecrosis, fatty degeneration and endomysial fibrosis. [ncbi.nlm.nih.gov]

Elevated serum creatine kinase (CK) concentration (sometimes 5-10x the normal range) Suggestive laboratory findings between attacks Normal serum potassium concentration and [ncbi.nlm.nih.gov]

[…] myotonia without weakness (PAM). [ncbi.nlm.nih.gov]

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Granulomatous Myositis

Vacuoles Acid maltase positive lysosomal vacuoles. Rimmed vacuoles inclusion body myositis. Freezing artifacts (clear). PAS glycogen storage disease. [librepathology.org]

Serum creatine kinase level was normal. View larger version (59K) Fig. 27 — 68-year-old man with newly diagnosed Shulman's syndrome. [ajronline.org]

However, the correct term for this symptom is asthenia. Asthenia is a lack of energy that may exist in the absence of true weakness. [rheumatologyadvisor.com]

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Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

[…] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic [neuromuscular.wustl.edu]

[…] serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms. [bio2rdf.org]

A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis. [ncbi.nlm.nih.gov]

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Dermatomyositis

Vacuoles in small & intermediate-sized muscle fibers GT stain Congo red stain Abnormal internal architecture in dermatomyositis muscle fibers is more apparent on Gomori trichrome [neuromuscular.wustl.edu]

The creatine kinase (CK) was increased to 3806 (normal range 24–170 U/l). Although Mi-2 antibody testing was not carried out she did have an IgG ANA level of 100. [ard.bmj.com]

Patients with malignancy, cardiac problems, asthenia-anorexia or pulmonary interstitial fibrosis are also at risk for this poor prognosis. [symptoma.com]

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Autoimmune Necrotizing Myopathy

Cytoplasmic vacuolation. Characteristic tubo-filamentous inclusions within the cytoplasm and nuclei of muscle cells. [patient.info]

An analysis of 21 clinical trials of statin therapy found that myopathy (creatine kinase level more than 10 times the upper limit of normal) occurred in 5 patients per 100,000 [mdedge.com]

Practical Applications Patients taking high dose statins, over the age of 50, who develop myopathy with muscular asthenia associated with increased CPK 5 times the upper limit [journals.seedmedicalpublishers.com]

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Steroid Myopathy

Serum CK levels may be elevated, and a muscle biopsy may demonstrate degenerating fibers, some with vacuoles. [frontiersin.org]

On the other hand, in chronic SM the serum levels of creatine kinase are normal but the urine creatinine clearance increases dramatically and can even appear several days [symptoma.com]

Eight of nine patients with proximal muscle weakness, and two of six without such weakness, experienced a significant decline in respiratory function, leading to symptomatic [ncbi.nlm.nih.gov]

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Amyotrophic Lateral Sclerosis

Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord. [ncbi.nlm.nih.gov]

Clinical laboratory tests that may be abnormal in otherwise typical case of ALS include [ 9 ]: • Muscle enzymes (serum creatine kinase [unusual above ten times upper limit [doi.org]

Asthenia There was a trend toward more asthenia among the treated participants in each trial, and this became statistically significant when the data from the three trials [doi.org]

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Congenital Muscular Dystrophy

Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization. [disorders.eyes.arizona.edu]

Laboratory studies may show that serum creatine kinase concentrations are normal or mildly increased. [orpha.net]

May need nasogastric tube, limb weakness and elevated serum creatine kinase. [en.wikipedia.org]

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Periodic Paralysis

The vacuoles were often associated with increased acid phosphatase staining. [ncbi.nlm.nih.gov]

Elevated serum creatine kinase (CK) concentration (sometimes 5-10x the normal range) Suggestive laboratory findings between attacks Normal serum potassium concentration and [ncbi.nlm.nih.gov]

Patient O.R, aged 19, presented marked asthenia and lower limbs paralysis, following high carbohydrate meal. [ncbi.nlm.nih.gov]

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Emery-Dreifuss Muscular Dystrophy

[…] attack complex (MAC) deposition either in vacuoles or muscle fibers. [ncbi.nlm.nih.gov]

Routine laboratory studies were normal except serum creatine kinase activity that was 276 UI (normal 1 - 50). [scielo.br]

[…] and lower limb weakness, but there is no difference for the age at onset of cardiac involvement. [ncbi.nlm.nih.gov]

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Batten-Turner Congenital Myopathy

Askanas V, Serratrice G, King Engel W.), Cambridge 1998 Research Grants & Projects myopathy with rimmed-vacuole formation. adult onset nemaline myopathy [researchmap.jp]

Respiratory failure is the most common cause of death in these patients.6,10,32 Creatine kinase levels are normal to mildly elevated and electromyography discloses a myopathic [the-medical-dictionary.com]

Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. [ncbi.nlm.nih.gov]

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Myotonic Dystrophy

Muscle cells had a ground glassy appearance, with multiple internal nuclei, increased vacuolations, and lipid accumulations. [doi.org]

kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram [step1.medbullets.com]

In this cohort (186 females, 121 males), a proximal weakness was the leading symptom at onset (55.4%), followed by myalgia (35.5%) and myotonia (25.4%). [ncbi.nlm.nih.gov]

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