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613 Possible Causes for Hyporeflexia, Muscle Hypotonia

  • Pelizaeus-Merzbacher Disease

    The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[ncbi.nlm.nih.gov] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[kattivatrends.com]

  • Myopathy and Diabetes mellitus

    Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: dysarthria hyporeflexia delayed motor development cerebellar ataxia intellectual delay Laboratory[malacards.org] […] regression and liver disease; might also include the clinical features of MCHS and MEMSA 55 , 56 , 57 Childhood myocerebrohepatopathy spectrum (MCHS) Neuropathy, ataxia, hypotonia[nature.com] There is usually no wasting but there may be hypertrophy of muscle (atrophy is a late sign). Reflexes and sensation are usually normal.[patient.info]

  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age.[pediatricneurologybriefs.com] } } Salvatore Dimauro , John F Nicholson , 4 authors Darryl C Devivo Published 1983 in Annals of neurology A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia[semanticscholar.org] Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis.[doi.org]

  • Encephalomyopathic Mitochondrial DNA Depletion Syndrome

    Sometime epilepsy develops. [5] In MDDS associated with mutations in RRM2B that primarily affect the brain and muscle, there is again hypotonia in the first months, symptoms[en.wikipedia.org] Dystonia ; Elevated serum creatine phosphokinase ; Facial diplegia ; Failure to thrive ; Feeding difficulties in infancy ; Generalized hypotonia ; Global developmental delay ; Hyporeflexia[mousephenotype.org] Infants with FBXL4 -related encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and a failure to grow or gain weight at the expected rate (failure[ghr.nlm.nih.gov]

  • Oculocerebrorenal Syndrome

    - Areflexia, Hypotonia Neurological - Seizures Ophthalmic - Congenital cataracts, Glaucoma Psychiatric - Intellectual impairment, Mental retardation Skeletal - Vitamin D[medicalchemy-syndromes.blogspot.com] In the first year of life intense hypotonia and hyporeflexia are observed, which are generally the first neurological manifestations.[renaltube.com] Neurological features Hyporeflexia and hypotonia are usual features. 'Ragged red fibre' muscle pathology has been described.[patient.info]

  • Spinocerebellar Ataxia, Type 2

    […] 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] Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe[ncbi.nlm.nih.gov] Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia.[cjcnn.org]

  • Familial Dysautonomia

    […] tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature.[prezi.com] […] dysautonomia an inherited disorder of childhood characterized by defective lacrimation, skin blotching, emotional instability, motor incoordination, absence of pain sensation, and hyporeflexia[medical-dictionary.thefreedictionary.com] […] autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia[medical-dictionary.thefreedictionary.com]

  • Dejerine-Sottas Disease

    […] wasting, foot and hand deformities 10-20 m/s CMT 4E (EGR2) 10q21; AR Birth Infant hypotonia 9-20 m/s CMT 4G 10q23.2; AR 8-16 years Distal weakness 9-20 m/s CMT 4H 12p11.21[emedicine.medscape.com] A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.[ncbi.nlm.nih.gov] CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.[anestesiarianimazione.com]

  • Poliomyelitis

    The main clinical manifestations of poliomyelitis are weakness, decreased muscle tone, and hyporeflexia.[amboss.com]

  • Schwartz-Jampel Syndrome

    All patients had feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature.[ncbi.nlm.nih.gov] Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia[mousephenotype.org] Hypotonia (rather than stiffness) is prominent. Frequent bouts of hyperthermia have been described (possibly related to mitochondrial dysfunction).[asja.eg.net]

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