Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy

Lash, Tyler; Kraemer, Ryan R.

doi:10.1007/s11606-014-2766-4

Cited by 9 publications

(10 citation statements)

References 13 publications

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“…Their physiological levels in plasma are between 5 and 50 IU/L but they depend on the technical laboratory, population reference and the selected distribution range (4). In line with other reports, the increased transaminases in our case also resulted in referral to the Hepatology and Gastroenterology Department for examination and evaluation; and muscle disease did not cross the mind of the assessing physician (5,6). The findings in our patient demonstrate that elevated serum AST and ALT in the absence of signs and symptoms of liver disease should lead to the consideration of occult muscle disease as a probable source.…”

Section: Discussionsupporting

confidence: 89%

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

Kamal¹,

Alghamdi²,

Halabi³

et al. 2018

jpr

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An asymptomatic 4.5 years-old Saudi girl was referred to the pediatric hepatology service with presumed liver disease because of the persistently elevated transaminases which were discovered accidently during routine laboratory workup. Alanine aminotransferase was 128 IU/L and aspartate aminotransferase was 143 IU/L. Subsequent investigations in the hepatology clinic revealed normal hepatic workup. Muscle related work up revealed increased creatine phosphokinase, abnormal electromyography and motor nerve conduction. Muscle biopsy was suggestive of early stage muscular dystrophy, and analyses were compatible with limb-girdle-muscle-disease Type 2C. Further confirmation was reached by molecular genetic testing. This case demonstrates that increased transaminases do not always suggest liver disease, and occult muscle disease should always be taken into account while investigating patients with unexplained persistent hypertransaminasemia.

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Section: Discussionsupporting

confidence: 89%

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

Kamal¹,

Alghamdi²,

Halabi³

et al. 2018

jpr

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“… 2 Clinical suspicion for underlying muscle pathology often remains higher in children than adults, and atypical musculoskeletal diseases presenting with aminotransferase elevation in adults are often a diagnostic challenge. 4, 5 The literature reports multiple cases of individuals undergoing many years of work-up for elevated transaminases including liver biopsies before being diagnosed with muscular dystrophy. 4, 5 Earlier consideration for musculoskeletal pathology may provide an opportunity to diagnose muscular dystrophy in the preclinical stages.…”

Section: Discussionmentioning

confidence: 99%

“… 4, 5 The literature reports multiple cases of individuals undergoing many years of work-up for elevated transaminases including liver biopsies before being diagnosed with muscular dystrophy. 4, 5 Earlier consideration for musculoskeletal pathology may provide an opportunity to diagnose muscular dystrophy in the preclinical stages.…”

Section: Discussionmentioning

confidence: 99%

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Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases

Aasen

Achdjian

Usta

et al. 2016

ACG Case Reports Journal

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We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages.

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“…Clinical manifestations of MD can range from asymptomatic cases with increase of creatinine kinase (CK) to severe debilitation and death early in life. Autosomal recessive forms of MD produce symptoms early in life and are severe whereas autosomal dominant forms have slower and less debilitating courses (1). Limb-girdle muscular disease (LGMD) comprise a group of inherited muscular dystrophy with chronic progressive weakness of hip and shoulder girdles.…”

Section: Introductionmentioning

confidence: 99%

Limb Girdle Muskuler Distrofi Tip 2a: Vaka Sunumu

Yılmaz¹,

Gökçeoğlu²,

Talim³

et al. 2022

Turkish Journal of Pediatric Disease

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Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular dystrophy with chronic progressive weakness of hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). LGMD 2A is known as calpainopathy in which there was a defect of gene encoding the protein named as calpain. There are three calpainopathy phenotypes according to distribution of muscle weakness and age at onset. In this report, we presented an asymptomatic child with persistant hyper CKemia diagnosed with muscle biopsy and genetic testing. Genetical examination results of the patient showed homozygote mutation of CAPN3 gene(c.2092C>A) and parents revealed that they were heterozygous unaffected carriers.

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Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy

Cited by 9 publications

References 13 publications

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases

Limb Girdle Muskuler Distrofi Tip 2a: Vaka Sunumu

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