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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[] Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[]

  • 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[] […] regression and liver disease; might also include the clinical features of MCHS and MEMSA 55 , 56 , 57 Childhood myocerebrohepatopathy spectrum (MCHS) Neuropathy, ataxia, hypotonia[] There is usually no wasting but there may be hypertrophy of muscle (atrophy is a late sign). Reflexes and sensation are usually normal.[]

  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age.[] } } 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[] Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis.[]

  • 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[] Dystonia ; Elevated serum creatine phosphokinase ; Facial diplegia ; Failure to thrive ; Feeding difficulties in infancy ; Generalized hypotonia ; Global developmental delay ; Hyporeflexia[] 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[]

  • Oculocerebrorenal Syndrome

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

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

  • Familial Dysautonomia

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

  • 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[] A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.[] CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.[]

  • Poliomyelitis

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

  • Schwartz-Jampel Syndrome

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

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