Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Psychomotor retardation and hypotonia were found in a 1 1/2 year old girl with bilateral corneal opacities. Very high levels of enzymes of muscular origin together with abnormal electromyograms and muscle biopsy lead at the time to the diagnosis of an unspecified muscle disorder. Twelve years later mucolipidosis IV (ML IV) was diagnosed in this child. She was then very retarded, ocular and neurologic deterioration were evident and enzyme levels were still very high. Only few patients affected with ML IV have been reported and all but one were very young; therefore it is important to add observations on the progression of the disease and on unusual clinical features like muscle involvement.
 ...
PMID:A muscle disorder as presenting symptom in a child with mucolipidosis IV. 687 26

The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacifications or clouding, and very slowly progressive neurodegeneration over many years. Elevation of serum gastrin is reported; findings from x-rays of bone and joints and lysosomal studies are normal. Reported here are two cases of mucolipidosis type IV in children not of Ashkenazi Jewish origin who presented during infancy with nonspecific global psychomotor delays, generalized hypotonia, and mild corneal abnormalities, but remained undiagnosed for years. A rare gene mutation in MCOLN1 was confirmed in one of the two patients, in addition to abnormal serum gastrin levels. More striking was the length of time that these children eluded detection of their final diagnosis.
 ...
PMID:Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. 2015 35