Nemaline myopathy: description of an adult onset case. 2002

F Ginanneschi, and M Mondelli, and A Malandrini, and S Gambelli, and M T Dotti, and A Federico
Research Center for Diagnosis, Therapy and Prevention of Neurohandicaps, Working Unit for Neurometabolic Diseases, University of Siena, Italy.

Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. This myopathy should be taken into account in the differential diagnosis of adult onset myopathies. Only ultrastructural examination allows an exact diagnosis.

UI MeSH Term Description Entries
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D017696 Myopathies, Nemaline A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) Myopathy, Nemaline,Myopathy, Rod,Myopathy, Rod-Body,Nemaline Myopathies,Adult Onset Nemaline Myopathy,Autosomal Dominant Nemaline Myopathy,Autosomal Recessive Nemaline Myopathy,Childhood Onset Nemaline Myopathy,Late Onset Nemaline Myopathy,Nemaline Body Disease,Nemaline Myopathy,Nemaline Myopathy, Adult Onset,Nemaline Myopathy, Autosomal Dominant,Nemaline Myopathy, Autosomal Recessive,Nemaline Myopathy, Childhood Onset,Nemaline Myopathy, Late Onset,Nemaline Rod Disease,Rod Body Disease,Rod Myopathy,Rod-Body Myopathy,Myopathies, Rod,Myopathies, Rod-Body,Myopathy, Rod Body,Rod Body Myopathy,Rod Myopathies,Rod-Body Myopathies
D018482 Muscle, Skeletal A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. Anterior Tibial Muscle,Gastrocnemius Muscle,Muscle, Voluntary,Plantaris Muscle,Skeletal Muscle,Soleus Muscle,Muscle, Anterior Tibial,Muscle, Gastrocnemius,Muscle, Plantaris,Muscle, Soleus,Muscles, Skeletal,Muscles, Voluntary,Skeletal Muscles,Tibial Muscle, Anterior,Voluntary Muscle,Voluntary Muscles

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