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38 Possible Causes for Facial Muscle Atrophy, Mild Cognitive Impairment, Percussion Myotonia

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] Specifically, the regional distribution and neuropsychologic correlates of NFTs and amyloid plaques in cognitively normal elderly subjects and in persons with mild cognitive[doi.org] From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal[ncbi.nlm.nih.gov]

  • Oculo-Pharyngo-Distal Myopathy

    myotonia: delayed relaxation following percussion of the thenar eminence Grip myotonia: delayed relaxation of firm handshake Reflexes depressed Gait: high steppage (foot[evidencereviewed.com] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.[ncl.ac.uk] Weakness in masseter, facial, and bulbar muscles have been observed but no muscle group seems to be spared. Atrophy of facial muscles is common and may be pronounced.[disorders.eyes.arizona.edu]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] cognitive impairments 17 ; more severe intellectual disability is more common with younger onset of clinical disease.[now.aapmr.org] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[ncbi.nlm.nih.gov]

  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] Spasticity, dystonia, tremor and migraine were variably present; cognitive impairment was severe in early childhood cases, but was absent in adults.[jnnp.bmj.com] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] cognitive impairment BMD X-linked recessive (Xp21) Prevalence 1/30 000 Teenage years Similar distribution of muscle wasting as in DMD, but more benign course 50%–70% eventually[doi.org] Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.[disorders.eyes.arizona.edu] Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] cognitive impairment LGMD2B DYSF / Dysferlin Young adulthood Very high Slow Asymmetric weakness; preference for biceps with spared deltoid; Absent or reduced dysferlin staining[now.aapmr.org] Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.[emedicine.medscape.com]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.[emedicine.medscape.com] There is proximal muscle weakness (pelvic and/or shoulder girdle) with atrophy and sparing of facial and neck muscles.[annalsofian.org]

  • Myotonic Syndrome

    […] used to test for percussion myotonia.[now.aapmr.org] Myokymia, muscle hypertrophy and percussion "myotonia" in chronic recurrent polyneuropathy. Neurology. 1978 Nov. 28(11):1130-4. [Medline].[emedicine.medscape.com] […] and stretch- or percussion-induced episodic rolling movement of muscle 2[jaoa.org]

  • Limb-Girdle Muscular Dystrophy Type 1H

    myotonia Skeletal muscle fibrosis Abnormality of the musculature Anemia Splenomegaly Cardiomyopathy Behavioral abnormality Depressivity Hepatosplenomegaly X-linked inheritance[mendelian.co] cognitive impairment LGMD2B DYSF / Dysferlin Young adulthood Very high Slow Asymmetric weakness; preference for biceps with spared deltoid; Absent or reduced dysferlin staining[now.aapmr.org] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co]

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