Myotonic Dystrophy - StatPearls - NCBI Bookshelf
2023年6月26日 — The classic form also presents with the characteristic “myopathic face” or “hatchet face” due to weakness and wasting of the facial, levator palpebrae, and masticatory muscles. As opposed to DM2, hearing loss is not frequently encountered.
Muscular Dystrophy - StatPearls - NCBI Bookshelf
2024年2月26日 — In myotonic dystrophy, the face takes on a hatchet-shaped appearance due to facial wasting and weakness, accompanied by bilateral partial ptosis. While bilateral facial palsy is rare, it is crucial to rule out other possible diagnoses for facial weakness, including upper and lower motor neuron disorders, through thorough diagnostic tests.
2008年12月1日 — There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as ‘Steinert’s disease’; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy.
MYOTONIC DYSTROPHY - Washington University in St. Louis
Myotonic dystrophy Weakness of face & sternomastoids Batten & Gibb Brain 1909;32:187-205 Rossolimo "De la myotonie atrophique" 1902
Myotonic dystrophies: An update on clinical aspects, genetic, …
2015年4月1日 — Myotonic dystrophies (DMs) are autosomal dominant, multisystemic diseases with a core pattern of clinical presentation including myotonia, muscular dystrophy, cardiac conduction defects, posterior iridescent cataracts, and endocrine disorders [1].
Myotonic Dystrophy: What It Is, Symptoms, Types & Treatment
2022年12月12日 — Myotonic dystrophy (DM) is an inherited multisystem condition that mainly causes progressive muscle loss, weakness and myotonia. It can also affect other parts of your body, including your heart, lungs and eyes. There’s no cure for DM, but certain treatments and therapies can help manage symptoms and improve quality of life.
Brain MRI abnormalities in the adult form of myotonic dystrophy …
2016年1月11日 — This study aimed to verify whether brain abnormalities, previously described in patients with myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over time and, if so, to characterize their progression. Thirteen DM1 patients, who had at least two MRI examinations, were retrospectively evaluated and included in the study.
Myotonic Dystrophies | Amato and Russell’s Neuromuscular …
Myotonic dystrophy is the most common myotonic disorder . There are two genetically distinct forms of myotonic dystrophy: dystrophica myotonia type 1 (DM1) and dystrophica myotonia type 2 (DM2), the latter of which is also known as proximal myotonic myopathy (PROMM). ... as well as the jaw muscles giving rise to the characteristic “hatchet ...
Myotonic Dystrophy (DM) - Diseases - Muscular Dystrophy …
Weakness and wasting (shrinking) of voluntary muscles in the face, neck and lower arms and legs are common in type 1 myotonic dystrophy. Muscles between the ribs and those of the diaphragm, which moves up and down to allow inhalation and exhalation of air, also can be weakened.
Myotonic Dystrophy Type 1 or Steinert's disease - PubMed
DM1 can be diagnosed on the grounds of clinical presentation (distal muscular atrophy and weakness, grip and percussion myotonia, ptosis, hatchet face, slurred speech, rhinolalia), EMG myotonic pattern, EKG (such as AV-blocks) or routine blood test abnormalities (such as increased CK values or hypogamma-globulinemia) and history of cataract.