| D007625 |
Kearns-Sayre Syndrome |
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) |
Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus |
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| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
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| D009157 |
Myasthenia Gravis |
A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition. |
Anti-MuSK Myasthenia Gravis,MuSK MG,MuSK Myasthenia Gravis,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle-Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Generalized,Myasthenia Gravis, Ocular,Anti MuSK Myasthenia Gravis,Generalized Myasthenia Gravis,Muscle Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Anti-MuSK,Myasthenia Gravis, MuSK,Ocular Myasthenia Gravis |
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| D009435 |
Synaptic Transmission |
The communication from a NEURON to a target (neuron, muscle, or secretory cell) across a SYNAPSE. In chemical synaptic transmission, the presynaptic neuron releases a NEUROTRANSMITTER that diffuses across the synaptic cleft and binds to specific synaptic receptors, activating them. The activated receptors modulate specific ion channels and/or second-messenger systems in the postsynaptic cell. In electrical synaptic transmission, electrical signals are communicated as an ionic current flow across ELECTRICAL SYNAPSES. |
Neural Transmission,Neurotransmission,Transmission, Neural,Transmission, Synaptic |
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| D009469 |
Neuromuscular Junction |
The synapse between a neuron and a muscle. |
Myoneural Junction,Nerve-Muscle Preparation,Junction, Myoneural,Junction, Neuromuscular,Junctions, Myoneural,Junctions, Neuromuscular,Myoneural Junctions,Nerve Muscle Preparation,Nerve-Muscle Preparations,Neuromuscular Junctions,Preparation, Nerve-Muscle,Preparations, Nerve-Muscle |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000293 |
Adolescent |
A person 13 to 18 years of age. |
Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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