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11 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] A variation of type 1 myotonic dystrophy , called congenital myotonic dystrophy , is apparent at birth.[web.archive.org] Clinical findings “Hatchet face”, lenticular opacities, endocrinopathies (testicular atrophy and androgen insufficiency), ovarian dysfunction which rarely interferes with[medical-dictionary.thefreedictionary.com]

  • Muscular Dystrophy

    Muscles in the face and the front of the neck are usually first to show weakness and may produce a haggard, "hatchet" face and a thin, swan-like neck.[web.archive.org] However, defects in CLCN1 disrupt ion flow, Read More In muscle disease: Myotonic diseases Myotonic dystrophy is the most common of the myotonic disorders.[britannica.com] RNA pathogenesis of the myotonic dystrophies.[ncbi.nlm.nih.gov]

  • Oculopharyngodistal Myopathy

    Cardiac conduction defects occur but are less common, and the hatchet face and frontal baldness are less consistent features.[clinicalgate.com] , myotonic dystrophy type 1 and multi-minicore disease associated to RYR1 mutations.[ncbi.nlm.nih.gov] 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]

  • 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] Myotonic dystrophy As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and muscle wasting.[nhs.uk]

  • Distal Myopathy Type Welander

    Cardiac conduction defects occur but are less common, and the hatchet face and frontal baldness are less consistent features.[clinicalgate.com] New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) . The International Myotonic Dystrophy Consortium (IDMC). Neurology.[cdc.gov] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.de]

  • 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 Myotubular myopathy X-linked Narcolepsy Nemaline myopathy Neonatal death due Leigh syndrome, MT-TV related Neurodegeneration due to cerebral folate transport deficiency[qlinics.com]

  • 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] MYOTONIC DYSTROPHY Myotonic dystrophy Myotonic dystrophy. Three ring fibers (one marked), atrophic myofibers, and central nuclei.[neuropathology-web.org] Myotonia is often found in sodium or chloride channelopathies, as well as in the myotonic dystrophies.[news-medical.net]

  • 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] 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] Myotonic dystrophy • Also called dystrophia myotonica. • Two types: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2).[slideshare.net]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    face, some MR, posterior capsule cataracts, cardiac disease, diabetes, testicular or ovarian atrophy; congenital form is severe at birth but improves in 4 to 6 weeks; EMG[neupsykey.com] dystrophy Myotubular myopathy X-linked Narcolepsy Nemaline myopathy Neonatal death due Leigh syndrome, MT-TV related Neurodegeneration due to cerebral folate transport deficiency[qlinics.com] dystrophy Myotonic syndrome NARP syndrome NPHP3-related Meckel-like syndrome Nance-Horan syndrome Nasu-Hakola disease Native American myopathy Nemaline myopathy Neonatal[se-atlas.de]

  • Duchenne Muscular Dystrophy

    Muscles in the face and the front of the neck are usually first to show weakness and may produce a haggard, "hatchet" face and a thin, swan-like neck.[web.archive.org] However, in a study of neuromuscular disease in Northern Ireland, Duchenne muscular dystrophy was found to have the second highest prevalence, after myotonic dystrophy (2)[gpnotebook.co.uk] Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy. Facial and neck muscles are usually the first to be affected.[web.archive.org]

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