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17 Possible Causes for 'Hatchet' Face, Myotonic Dystrophy

  • Myotonic Dystrophy

    A ‘Hatchet Face’ appearance due to temporalis and masseter muscle wasting. During a hand shake, the patient may have difficulty with release due to exaggerated myotonia.[eyewiki.aao.org] Myotonic dystrophy is of 2 types; namely: myotonic dystrophy type 1 and myotonic dystrophy type 2.[symptoma.com] Clinical findings “Hatchet face”, lenticular opacities, endocrinopathies (testicular atrophy and androgen insufficiency), ovarian dysfunction which rarely interferes with[medical-dictionary.thefreedictionary.com]

  • X-linked myotubular myopathy-abnormal genitalia syndrome

    Clinical findings “Hatchet face”, lenticular opacities, endocrinopathies (testicular atrophy and androgen insufficiency), ovarian dysfunction which rarely interferes with[medical-dictionary.thefreedictionary.com] dystrophy Steinert disease, Dystrophia myotonica type 1, Congenital dystrophia myotonica, Dystrophia myotonica type 2, Proximal myotonic myopathy, PROMM Myotubular myopathy[socialstyrelsen.se] dystrophy 1 ) · ATR ( Seckel syndrome 1 ) · GRK1 ( Oguchi disease 2 ) · WNK4 / WNK1 (Pseudohypoaldosteronism 2) Tyrosine phosphatase PTEN (Bannayan–Riley–Ruvalcaba syndrome[en.academic.ru]

  • Reducing Body Myopathy

    A ‘Hatchet Face’ appearance due to temporalis and masseter muscle wasting. During a hand shake, the patient may have difficulty with release due to exaggerated myotonia.[eyewiki.aao.org] There is weakness of the facial muscles, and atrophy of the temporalis, masseter, and sternocleidomastoid muscles, leading to a characteristic hatchet-face appearance.[nature.com] MYOTONIC DYSTROPHY Myotonic dystrophy Myotonic dystrophy. Three ring fibers (one marked), atrophic myofibers, and central nuclei.[neuropathology-web.org]

  • IMAGE Syndrome

    Look for other signs of myotonic dystrophy: hatchet face, cataracts, baldness, myopathic facies).[stanfordmedicine25.stanford.edu] Look for other signs of myotonic dystrophy: hatchet face, cataracts, baldness, myopathic facies).[stanfordmedicine25.stanford.edu]

  • Progressive External Ophthalmoplegia - Myopathy - Emaciation Syndrome

    Hatchet-faced appearance d/t temporalis, masseter, facial muscle atrophy & weakness Frontal baldness Neck muscles, sternocleidomastoids & distal limb muscles – involved early[prezi.com] MYOTONIC DYSTROPHY 2; DM2 Is also known as dystrophia myotonica 2, proximal myotonic myopathy;promm, myotonic myopathy, proximal, ricker syndrome;myotonic dystrophy type 2[mendelian.co] DM2- proximal myotonic myopathy• Autosomal dominant disease• Responsible gene – chr 19q13.3• CTG trinucleotide repeats Myotonic Dystrophy clinical features • Hatchet-faced[docslide.com]

  • Neuromuscular Junction Disorder

    There is weakness of the facial muscles, and atrophy of the temporalis, masseter, and sternocleidomastoid muscles, leading to a characteristic hatchet-face appearance.[nature.com] Myasthenia gravis Myotonic dystrophy Neuromuscular junction disorders Neuromyotonia (Isaacs syndrome) Peripheral neuropathy Polymyositis Research Doctors are active in clinical[mayoclinic.org] In myotonic dystrophy, ptosis is frequent and asymmetric, even if it is not marked and causing little discomfort to the patient.[atlasofscience.org]

  • Oculopharyngodistal Myopathy

    , myotonic dystrophy type 1 and multi-minicore disease associated to RYR1 mutations.[ncbi.nlm.nih.gov] Cardiac conduction defects occur but are less common, and the hatchet face and frontal baldness are less consistent features.[clinicalgate.com] dystrophy type 1 (DM1), which is caused by an unstable, expansile CTG trinucleotide repeat in the gene myotonic dystrophy type 1 protein kinase (DMPK) on chromosome 19 Demonstrates[evidencereviewed.com]

  • Infantile Onset Autophagic Vacuolar Myopathy

    Clinical features: • Hatchet-faced – temporalis, masseter & facial muscle weakness. • Frontal baldness is characteristic. • Neck muscles, including flexors and sternocleidomastoids[slideshare.net] , especially myotonic dystrophy Other necrotizing myopathies FIGURE 4.10 Fiber splitting.[basicmedicalkey.com] Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochim Biophys Acta. 2015 Oct;1852(10 Pt A):2042-2047.[ncnp.go.jp]

  • Distal Myopathy with Early Respiratory Muscle Involvement

    , masseter, and facial muscle atrophy and weakness – Result in typical "hatchet-faced" appearance – Less consistent in DM2 • Frontal baldness characteristic in men – Less[slideshare.net] […] muscular dystrophy; Fascioscapulomuneral muscular dystrophy; Myotonic dystrophy; Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies[books.google.com] Cardiac conduction defects occur but are less common, and the hatchet face and frontal baldness are less consistent features.[basicmedicalkey.com]

  • Dysphonia due to Muscle Weakness

    There is weakness of the facial muscles, and atrophy of the temporalis, masseter, and sternocleidomastoid muscles, leading to a characteristic hatchet-face appearance.[nature.com] Curr Opin Neurol 27(5):583–90 Google Scholar Turner C, Hilton-Jones D (2014) Myotonic dystrophy: diagnosis, management and new therapies.[link.springer.com] OPMD falls within the category of non-congenital, myogenic ptosis, which also includes chronic progressive external ophthalmoplegia and myotonic dystrophy ( Wong et al., 2002[webeye.ophth.uiowa.edu]

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