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  • Title: Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.
    Author: van Gent EM, Hoogland RA, Jennekens FG.
    Journal: J Neurol Neurosurg Psychiatry; 1985 Mar; 48(3):266-9. PubMed ID: 3981197.
    Abstract:
    An autosomal dominant disease characterised by amyotrophy of predominantly distal upper limb muscles and mild pyramidal features is described. There are sensory changes in older patients, whilst in others the disease presents itself as a disorder of motor neurons. Owing to variations in the clinical picture, it may be difficult to distinguish this disease in individual patients from distal spinal muscular atrophy, or from pure pyramidal syndromes. There is an overlap in clinical signs between this disease and peroneal muscular atrophy with pyramidal features. Whether or not the latter two conditions are genetically distinct, is a matter of doubt.
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