Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ultrastructural and biochemical studies were performed on postmortem material of a 67-year-old woman presenting with proximal muscle weakness in the legs, slurred speech, and mental subnormality. The symptoms began at age 19 and showed extremely slow progression, mimicking progressive muscular dystrophy. A brother suffered from a similar chronic neuromuscular disease, and two sisters died at an early age from unknown "nervous" diseases. Autopsy disclosed abundant lipid accumulation in CNS neurons and severe cerebellar cortical atrophy of the granule cell type. Skeletal muscle showed a terminal stage of denervation atrophy with severe lipomatosis; intrafusal fibers of muscle spindles contained lipid deposits. Complex lamellar cytoplasmic inclusions often resembling membranous cytoplasmic bodies or stacked membranes were seen in cells of the brain. In addition, there were various lipopigment bodies, fingerprint profiles, rare polyglucosan bodies, rodlike structures, and filamentous sheaves, particularly in substantia nigra. Accumulation of gangliosides GM2 and GA2 in the cerebral cortex was demonstrated by thin-layer chromatography. Determination of hexosaminidase activity was not possible (formalin-fixed material). This observation, in addition to the cases reported by Navon et al. [1981] and Johnson [1982], is suggested to represent a new phenotype of adult-onset GM2 gangliosidosis referred to as motor neuron disease phenotype, which can be differentiated from other adult-onset lipidoses and motor neuron disorders. Our paper emphasizes the importance of ultrastructural demonstration of lamellar inclusions for the differential diagnosis of ceroid lipofuscinosis, and the value of biochemical studies in the diagnostic clarification of atypical neuromuscular disorders.
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PMID:Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. 716 18

Megalencephaly is as a rule accompanied by macrocephaly, an occipitofrontal circumference (OFC) greater than the 98th percentile. Megalencephaly is divided into an anatomic type (developmental) and a metabolic type. Metabolic megalencephaly refers to various storage and degenerative encephalopathies. The differential diagnosis includes Alexander's disease, Canavan's disease, glutaric aciduria type 1, GM1 and GM2 gangliosidosis, merosin-deficient variant of congenital muscular dystrophy and megalencephalic leukoencephalopathy with subcortical cysts (MLC). The distinctive features of this syndrome are enlarged cranial circumference, present at birth or starting in the first year of life, and magnetic resonance imaging (MRI) evidence of diffuse with matter abnormalities with subcortical cysts in the tips of the temporal lobes and in frontoparietal subcortical areas. Mutations in the MLC1 gene have been found as causative of MLC in 60-70 % of affected subjects, without genotype-phenotype correlation. The child we describe presented with progressive macrocephaly not associated with dysmorphic features and large abdominoscrotal hydrocele. At the age of 8 months, encephalic MRI showed anomalies suggestive for MLC and brainstem auditory evoked potentials (BAEP) documented alterations of signal conduction in right tracts. At the time, clinical neurologic examination was normal. Extensive metabolic assays were within normal range. Sequence analysis for MLC1 gene revealed a compound heterozygosity for two mutations in MLC1 gene, inherited from healthy non consanguineous parents.
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PMID:A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. 2148 77