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22 Possible Causes for Difficulty Climbing Stairs, Mild Cognitive Impairment, Percussion Myotonia

  • 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] Symptoms may include: Progressive muscle weakness and wasting (atrophy) Waddling way of walking Difficulty climbing stairs Difficulty rising from lying or sitting Repeated[cedars-sinai.edu]

  • 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] […] raising the head when lying down difficulty holding an object firmly a shuffling gait difficulty climbing stairs or rising from a seated position Media Dr.[muscle.ca]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    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] This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor or from a chair.[treat-nmd.eu] He had difficulty in climbing stairs, running, getting up from squatting position, and raising arms above the head. There was thinning of shoulders, arms and thighs.[jcdr.net]

  • 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] Patients as well experience difficulties when climbing to stairs.[myotonia.com.hr]

  • 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] 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] climbing stairs or getting up from chairs.[sharecare.com]

  • 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] Diffuse inter-episode weakness, mainly in the proximal muscles, invariably developed around the fourth to fifth decade and was slowly progressive, with difficulty in climbing[doi.org] cognitive impairments 17 ; more severe intellectual disability is more common with younger onset of clinical disease.[now.aapmr.org]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C

    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] climbing stairs and walking.[rarediseases.org] This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor or from a chair.[treat-nmd.eu]

  • 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] climbing stairs Lower limb muscle weakness Limb muscle weakness Pectus carinatum Dysphonia Hypomimic face Lactic acidosis Congenital cataract Hypertrophic cardiomyopathy[mendelian.co] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.[ncl.ac.uk]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    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] This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor or from a chair.[treat-nmd.eu] Difficulties in rising from a chair or toilet seat and difficulties in climbing stairs are common.[encyclopedia.com]

  • Isaac Syndrome

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

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