Archives: Conditions A-Z
Multiple endocrine neoplasia type 1
Tumor syndrome of parathyroid, pancreatic islet and pituitary glands.
Mucopolysaccharidosis type VI
Arylsulfatase B deficiency with skeletal dysplasia and organomegaly, intelligence usually preserved.
Mucopolysaccharidosis type IVA
Keratan sulfate storage with severe skeletal dysplasia and preserved intelligence.
Myelodysplastic syndromes
Clonal marrow disorders with ineffective hematopoiesis, cytopenias and leukemia risk.
Multiple system atrophy
Progressive neurodegeneration with autonomic failure plus parkinsonism or cerebellar ataxia.
Myotonic dystrophy
Multisystem dystrophy with myotonia, weakness, cataracts, cardiac conduction defects; commonest adult-onset MD.
Narcolepsy with cataplexy
Chronic sleep disorder with excessive daytime sleepiness and cataplexy from orexin/hypocretin deficiency.
Myotubular myopathy
Severe congenital myopathy with neonatal hypotonia and respiratory failure from myotubularin deficiency.
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