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13 Possible Causes for Alopecia, Mild Cognitive Impairment, Percussion Myotonia

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] BACKGROUND: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas.[ncbi.nlm.nih.gov] 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]

  • 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] DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells.[neuropathology-web.org]

  • Metabolic Syndrome

    Muscle weakness, Percussion-induced myotonia Other features N/A Terato- zoospermia Short stature, Hypocalcemia, Vitamin D resistance Low bone density for age, distal metaphyseal[ncbi.nlm.nih.gov] Roberts , RO , Geda , YE , Knopman , DS et al ( 2010 ) Metabolic syndrome, inflammation, and nonamnestic mild cognitive impairment in older persons: a population-based study[cambridge.org] Both women ultimately progressed to treatment-resistant alopecia universalis.[ncbi.nlm.nih.gov]

  • 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] It remains to be elucidated whether diffuse alopecia results from PLEC mutations and/or from environmental factors.[ncbi.nlm.nih.gov]

  • Oculopharyngodistal 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] Patients may have frontal alopecia, cardiomyopathy and testicular atrophy.[reviewofophthalmology.com]

  • Limb-Girdle Muscular Dystrophy

    Patients with myotonic dystrophy type 1 may present subtle myotonia and it may be necessary to search for tenar muscle percussion myotonia 15.[doi.org] Clinical manifestations include skin symptoms, infantile respiratory complications, alopecia, nail and teeth dystrophic changes, laryngeal and urethral strictures, cerebral[frontiersin.org] RESULTS We studied a Turkish patient with a relatively mild form of muscular dystrophy accompanied by cognitive impairment (see Case 2 in Dinçer et al. 14 ).[ncbi.nlm.nih.gov]

  • Autosomal Dominant Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] cognitive impairment Miller Fisher syndrome Miller–Dieker syndrome Milner–Khallouf–Gibson syndrome MILS syndrome Minamata disease Minkowski–Chauffard syndrome Minoxidil antenatal[en.wikipedia.org] […] autosomal dominant leukodystrophy (disorder) {448054001, SNOMED-CT } Adult-onset distal myopathy due to valosin containing protein mutation (disorder) {770792007, SNOMED-CT } Alopecia[phinvads.cdc.gov]

  • Muscle-Eye-Brain Disease Type A2

    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] Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome[sequencing.com] 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]

  • Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

    […] used to test for percussion myotonia.[now.aapmr.org] […] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpers-Huttenlocher syndrome Alpha-B crystallin-related[se-atlas.de] Patients may have frontal alopecia, cardiomyopathy and testicular atrophy.[reviewofophthalmology.com]

  • Centronuclear Myopathy Type 4

    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] […] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpers-Huttenlocher syndrome Alpha-B crystallin-related[se-atlas.de] In rare cases, the mutation can also lead to a condition associated with elements of centronuclear myopathy, polyneuropathy, and mild cognitive impairment.[socialstyrelsen.se]

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