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5,058 Possible Causes for Hyperactive Brainstem Reflexes, Rapid Progression, Respiratory Function Decreased due to Muscle Weakness

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Disease progression was rapid, and the majority of patients died from respiratory failure within 1–5 years after onset of disease.[link.springer.com] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] Hereditary pure lower motor neuron disease with adult onset and rapid progression. J Neurol 2001 ; 248 : 290 –96.[academic.oup.com]

  • Amyotrophic Lateral Sclerosis Type 10

    It is possible that the severity and the rapid progression of the ALS hamper the detection of extrapyramidal signs.[link.springer.com] Cross sectional correlation of NF levels with ALSFRS-R scores and comparison between patients with rapid progression and ones with slow progression were also mentioned in[journals.plos.org] The novel p.Gly376Asp TARDBP mutation is associated with rapid disease progression and may be associated with an accessory nipple while the p.Asn352Ser mutation is associated[karger.com]

    Missing: Hyperactive Brainstem Reflexes
  • Glycogen Storage Disease Type 2

    There is often a rapid progression to cardiac failure and death typically occurs within the first year.[genedx.com] Infantile-onset Pompe disease is associated with a rapid progression of disease severity and a high mortality rate. 3 Late-onset Pompe disease typically affects patients greater[avrobio.com] Its severity is quite variable, however, generally, the earlier the symptoms present, the more rapid progression.[mda.org.au]

    Missing: Hyperactive Brainstem Reflexes
  • Amyotrophic Lateral Sclerosis Type 17

    FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet. 2010;55:252–4. doi: 10.1038/jhg.2010.16 .[link.springer.com] […] disease progression. 22 Nonconventional MR Imaging Assessment of the Motor System Regional Atrophy Despite the consistent finding of cortical motor involvement in pathologic[ajnr.org] […] more rapid Death Cause of death: Respiratory failure most common Respiratory failure with reduced consciousness: 2 to hypercapnea Death: Usually peaceful & occurs in sleep[neuromuscular.wustl.edu]

    Missing: Hyperactive Brainstem Reflexes
  • X-Linked Reducing-Body Myopathy 1A

    As a result, the minute ventilation drops progressively reaching its minimum during the phasic stage of rapid eye movement (REM) sleep ( 3 ).[frontiersin.org]

    Missing: Hyperactive Brainstem Reflexes
  • Oculo-Pharyngo-Distal Myopathy

    Which muscular dystrophy has a rapid progression? Which muscular dystrophies have elevated CK? Duchenne Becker Limb Girdle Which MD has a normal EKG?[brainscape.com] : Rapid Laboratory Serum CK: Mildly high EMG: Myopathic Japanese Distal weakness Cardiac conduction block OPMD families without increased GCG repeats Typical features Ptosis[neuromuscular.wustl.edu] Weakness Proximal More severe than heterozygotes Posterior neck : 1 patient Distal Gait disorder: In 7th decade Myalgias Shortened life expectancy: Aspiration Cognitive changes Progression[neuromuscular.wustl.edu]

    Missing: Hyperactive Brainstem Reflexes
  • Congenital Myopathy with Excess of Thin Filaments

    […] in the cytoplasm, although 10% of cases alsoshow intranuclear deposits.6,7,17,20 Prior reports havesuggested that the intranuclear inclusions are asso-ciated with a more rapid[documents.tips] Progression is minimal or very slow; more rapid progression is rare.[misc.medscape.com] progression and worseprognosis.2,19 Our patient, however, has shown anonprogressive course and a high degree of func-tion, similar to the patient of Jungbluth et al.14 Closeinspection[documents.tips]

    Missing: Hyperactive Brainstem Reflexes
  • Congenital Muscular Dystrophy due to LMNA Mutation

    DMD is the most severe form of muscular dystrophy and it is characterized as follows1: Rapid progression of muscle weakness, often with calf hypertrophy Decreased levels of[centogene.com] It progresses slowly, with short periods of rapid muscle deterioration and weakness. Severity ranges from very mild to completely disabling.[webmd.com] DMD affects boys in early childhood, causing progression of muscle weakness and resulting gait problems, general motor delay, and speech/learning difficulties.[centogene.com]

    Missing: Hyperactive Brainstem Reflexes
  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    progression Complex I deficiency Clinical Features of Leigh's Syndrome Earlier the onset the more rapid and severe the illness with death in infancy Onset one year (60%)[neurodiffdx.com] […] manifestations depend on the severity of the deficit and not the particular enzyme that is deficient Clinical Features of PDHC: Presentation at birth Males Females; may be X-linked Progressive[neurodiffdx.com] […] encephalopathy: Psychomotor retardation Seizures Generalized hypotonia Metabolic and lactic acidosis Rapid respiration Infantile or neonatal onset Facial dysmorphism Ataxia[neurodiffdx.com]

    Missing: Hyperactive Brainstem Reflexes
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs.[ncbi.nlm.nih.gov] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] Results: Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs.[eprints.uniss.it]

    Missing: Respiratory Function Decreased due to Muscle Weakness

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