PMID: 9441258Jan 24, 1998Paper

Proximal myotonic myopathy (PROMM). Clinical variability within a family

Der Nervenarzt
K EgerS Zierz

Abstract

Proximal myotonic myopathy (PROMM) is a newly described autosomal dominant inherited disorder characterized by predominant proximal weakness of the legs, mild clinical myotonia or myotonia on electromyograms (EMG), cataracts and slight elevation of liver enzymes. The trinucleotide (cytosine, thymine, and guanine) repeat size of the myotonic dystrophy (DM) gene is normal. Magnetic resonance imaging of the brain may reveal a peculiar pattern of white matter abnormalities. We describe seven patients in a new family with PROMM. The only symptoms may be subclinical myotonic changes in the EMG or cataracts, but symptoms may also include severe proximal weakness of the legs and painful paraesthesia. PROMM is an important differential diagnosis of myotonic dystrophy; and because of the proximal weakness it is also a differential diagnosis of other muscle diseases such as limb girdle dystrophy, metabolic and endocrine myopathies, and myositis. Because of the variability of the symptoms, for the definite diagnosis of PROMM it may require the examination of other family members.

Citations

Nov 10, 2000·Current Opinion in Neurology·G Meola
Sep 11, 2002·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J Finsterer
Oct 27, 2004·Journal of Neurology·Giovanni Meola, Richard T Moxley
Jul 4, 2015·Acta Clinica Belgica·Josef FinstererMartin Gencik

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