Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1

نویسندگان

  • Jin-Sung Park
  • Donghwi Park
چکیده

RATIONALE Although several studies have described the involvement pattern of myotonic dystrophy type 1 (DM1) using muscle MRI, most of these studies have limitations as cross-sectional studies. To the best of our knowledge, there have been no reports of longitudinal studies describing muscle involvement patterns in patients with DM1 via serial MRI. PATIENT CONCERNS Progressive weakness of both lower extremities. DIAGNOSIS Two patients with DM1. INTERVENTION The serial muscle MRI performed in the 2 patients with DM1. OUTCOMES The serial muscle MRI showed early involvement of proximal (tensor fascia latae) and truncal muscles (spine extensor muscles), and these longitudinal imaging may be helpful to reveal the pattern of muscle involvement in patients with DM1. LESSONS Since most previous studies on muscle involvement patterns in DM1 patients were cross-sectional studies, this case series of studying muscle involvement patterns through serial MRI in patients with DM1 may have significant clinical significance.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

متن کامل

Age and causes of death in adult-onset myotonic dystrophy.

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Sou...

متن کامل

[Clinical features and care of patients with congenital and childhood-onset myotonic dystrophy].

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder with variable expression. DM1 results from a trinucleotide expansion in the 3' untranslated region or the gene for myotonic dystrophy protein kinase (DMPK). Severity tends to increase and it shows a younger onset age with vertical transmission, a phenomenon known as anticipation. Congenital myotonic dystrophy (CDM) is classified ...

متن کامل

Paternal transmission of congenital myotonic dystrophy.

We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmi...

متن کامل

Anterior temporal white matter lesions in adult-form myotonic dystrophy type 1.

A 57-year-old woman presented with a 4-years history of progressive weakness, distal muscular atrophy and myotonia in left hand (Figure 1). Her electromyography had a myotonic pattern. Patient was first diagnosed as paraneoplasic limbic encephalitis based on her brain MRI (Figure 2). Diagnosis was genetically confirmed for myotonic dystrophy type 1 (DM1). DM1 or Steinert’s disease is an autosom...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 97  شماره 

صفحات  -

تاریخ انتشار 2018