A newly-described myotonic disorder (proximal myotonic myopathy — PROMM): personal experience and review of the literature
نویسندگان
چکیده
منابع مشابه
Clinical Spectrum of Proximal Myotonic Myopathy (PROMM) Syndrome
We studied 25 patients with proximal myotonic myopathy (PROMM) from 3 unrelated kindreds and present data on the clinical spectrum of this syndrome. Our data show that phenotypic expression and degree of multisystem involvement may vary widely between and within kindreds. In conclusion our results suggest clinical and genetic heterogeneity of PROMM syndromes.
متن کاملProximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.
BACKGROUND Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders. It is important to extend our clinical knowledge of this interesting new disorder by studying other families. PATIENTS ...
متن کاملMarathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia
OBJECTIVES A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS Case report. RESULTS The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 2...
متن کاملProximal myotonic myopathy: clinical, neuropathologic, and molecular genetic features.
The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. ...
متن کاملmyotonic disorders: a review article
the myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. the presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (mc), to severe disability with muscle weakness, cardiac conduction def...
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ژورنال
عنوان ژورنال: The Italian Journal of Neurological Sciences
سال: 1996
ISSN: 0392-0461,1590-3478
DOI: 10.1007/bf01999897