Myotonic Dystrophy Type 1 (DM1)

Myotonic Dystrophy Type 1 (DM1) is the most common adult muscular dystrophy with an incidence estimated to be as high as 1/8,000. It is inherited as an autosomal dominant disorder with anticipation. Consequently, the disease is highly variable in onset and severity. In the mildest form, patients may be asymptomatic until mid to late adult life with minimal facial and distal muscle weakness. In the classic presentation, onset is in adolescence or young adulthood with myotonia and progressive muscle weakness and wasting. The facial phenotype is distinctive, with a long narrow face, temporal and masseter muscle wasting and ptosis. Dysarthria and dysphagia result from palatal, pharyngeal and tongue involvement. Proximal muscle involvement includes neck flexors and sternocleidomastoids, but distal weakness predominates producing functionally limiting hand weakness and foot drop. Respiratory muscle weakness may necessitate ventilatory assist devices.

Category:

Education

Tags:

• Myotonic
• Dystrophy
• Type
• (DM1)

[yeahtoast2011]

New as far as I know. I've been to a doctor and she wanted to do a biopsy. Is that what they do? Shouldn't they just to the gene test?

[bobinho1992]

@yeahtoast2011 is it since birth or new ? and go to a specialist doctor !

[yeahtoast2011]

I think I have a mild form of this or the start of it. My arms looks just like this guy's, when I carry things my fingers get stuck, and I have stretchy skin in my face and neck and sometimes it feel like my eyelids are "slow" (if that makes any sense) I also have hip weakness and other joints are weak. I don't know what is going on, neither do my doctors, but this disorder has always stuck in my head.

[candymancame]

الف شكر يا دكتور على الرفع