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18 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]

  • 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]

  • Oculo-Pharyngo-Distal 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]

  • Acquired Amyloid Myopathy

    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] Dystrophinopathy (Duchenne muscular dystrophy,Becker muscular dystrophy) Myotonic dystrophy 1 and 2 Facioscapulohumeral muscular dystrophy Oculopharyngeal muscular dystrophy[clevelandclinicmeded.com] Limb girdle dystrophy Fascioscapular humeral dystrophy Duchene/Beckers dystrophy Myotonic dystrophy Congenital Nemaline myopathy Centronuclear or myotubular myopathy Congenital[rheumaknowledgy.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]

  • Fingerprint Body Myopathy

    Cardiac conduction defects occur but are less common, and the hatchet face and frontal baldness are less consistent features.[basicmedicalkey.com] Identical ultrastructural findings in patients without muscular signs or symptoms were noted in 3 adult patients with myotonic dystrophy ( Tome 1973 ) and in a patient with[medlink.com] Multiple acyl-CoA dehydrogenase deficiency Muscular dystrophy Myopathy with hexagonally cross-linked tubular arrays Myotonic dystrophy NARP syndrome NTHL1-related attenuated[se-atlas.de]

  • Proximal Myopathy with Extrapyramidal Signs

    The facial appearance is characteristic, with bilateral ptosis and wasting, which has been termed "hatchet face."[intranet.tdmu.edu.ua] Distal weakness is seen in myotonic dystrophy, and the rare dominant and recessive distal myopathies.[jnnp.bmj.com] Proximal myotonic myopathy (PROMM) or myotonic dystrophy type 2 (DM2): The age of onset is in the 2 nd or 4 th decade of life (age range 13 – 67 years, median 48 years).[neuroweb.us]

  • 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] This may be due to pre-meiotic mutations during spermatogenesis. [49] Anticipation is most often seen with certain disorders such as Huntington's disease, DRPLA myotonic dystrophy[jpgmonline.com]

  • Duchenne Muscular Dystrophy

    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] 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] 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]

  • 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 from X-linked myotubular myopathy. ( 22113158 ) Sewry C.A....Holt I. 2012 31 Necklace fibers as histopathological marker in a patient with severe form of X-linked[malacards.org] dystrophy Steinert disease, Dystrophia myotonica type 1, Congenital dystrophia myotonica, Dystrophia myotonica type 2, Proximal myotonic myopathy, PROMM Myotubular myopathy[socialstyrelsen.se]

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