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161 Possible Causes for Brisk Deep Tendon Reflexes, Muscle Hypotonia

  • Chromosome 17p13.1 Deletion Syndrome

    deep tendon reflexes Skeletal: ligamentous laxity Skeletal Hands: short hands proximally placed thumbs Abdomen Gastrointestinal: gastrointestinal reflux Chest Breasts: inverted[malacards.org] hypotonia - Delay in motor function Delay in fine motor skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay[bmcmedgenet.biomedcentral.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 High palate Elevated palate Increased palatal height [ more[rarediseases.info.nih.gov]

  • Pelizaeus-Merzbacher Disease

    Salient features on examination were impaired cognition, pendular nystagmus, axial and appendicular hypotonia with preserved antigravity movements, brisk-deep tendon reflexes[annalsofian.org] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[kattivatrends.com]

  • Spinocerebellar Ataxia Type 13

    Among these subjects, four had brisk deep tendon reflexes, one of whom also had mild lower extremity spasticity and a slight tremor.[link.springer.com] hypotonia.[cerebellumandataxias.biomedcentral.com] deep tendon reflexes, and loss of the sense of vibration. [2] [3] SCA13 is caused by changes or mutations in the KCNC3 gene and it is inherited in an autosomal dominant manner[rarediseases.info.nih.gov]

  • Weaver Syndrome

    Neurological examination showed increased tone bilaterally in the lower limbs, with upward plantar reflexes and symmetrical but brisk deep tendon reflexes.[jmg.bmj.com] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] Low or weak muscle tone 0001252 Overlapping toe Overlapping toes Overriding toes [ more ] 0001845 Prominent fingertip pads Prominent finger pads 0001212 Radial deviation[rarediseases.info.nih.gov]

  • Spinocerebellar Ataxia, Type 2

    Rosa Al, Molina I, Kowaljow V, Conde CB (2006) Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.[link.springer.com] […] twitch 0002380 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone The ATXN2 gene mutations that[rarediseases.info.nih.gov] Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course.[flybase.org]

  • Motor Neuron Disease

    deep tendon reflexes, and absence of sensory deficits.[ncbi.nlm.nih.gov] Loss of lower motor neurons causes denervation atrophy of muscle, manifested by severe hypotonia, weakness, and inability to breathe.[neuropathology-web.org] Symptoms may include hypotonia (severely reduced muscle tone), diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties[ninds.nih.gov]

  • Pettigrew Syndrome

    Scissoring of the lower limbs and brisk deep tendon reflexes were present, although overall tone was decreased.[nature.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High-frequency hearing impairment Hearing loss, high-frequency High frequency hearing[rarediseases.info.nih.gov] Not very common - Between 30% and 50% cases Skeletal muscle atrophy And 60 more phenotypes.[mendelian.co]

  • Holoprosencephaly Type 2

    Generalized hypotonia with brisk deep tendon reflexes and extensor plantar reflex.[omicsonline.org] […] may lead to strabismus Symptoms Usually noted at birth Include body temperature dysregulation, seizures, mental retardation of varying severity, hypotonia and dystonia.[webeye.ophth.uiowa.edu] Signs Facial anomalies include closely spaced eyes, small head size, cleft lip and cleft palate Hydrocephalus may lead to large head size Anomalous insertions of extraocular muscles[webeye.ophth.uiowa.edu]

  • Gangliosidosis

    Thus the disease can clinically present accordingly with upper motor neuron lesions like spasticity and brisk deep tendon reflexes despite the presence of cherry red spot[casereports.in] At 6 to 10 months limp and floppy muscles (hypotonia). decreased alertness and playfulness. difficulty sitting up or rolling over loss of motor skills. decreased hearing and[radiopaedia.org] Another sign of GM1-ganglioside storage in the central nervous system is muscle problems. Most of these infants will have low muscle tone, called hypotonia.[encyclopedia.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Brisk deep tendon reflexes (sometimes even with a few beats of clonus) are often observed.[ojrd.biomedcentral.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Showing of 57 Last updated: 11/1/2018 If you[rarediseases.info.nih.gov] Symptoms via clinical synopsis from OMIM: 57 Skeletal Spine: scoliosis Head And Neck Ears: microtia hearing loss, conductive or mixed Head And Neck Face: micrognathia Muscle[malacards.org]

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