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Adult Polyglucosan Body Disease

APBD


Presentation

  • In addition, this is the first report of an APBD patient presenting with a subacute diaphragmatic failure.[ncbi.nlm.nih.gov]
  • Progressive spasticity and weakness are also present due to upper and lower motor neuron involvement and patients have difficulty walking.[orpha.net]
Urinary Urgency
  • The two affected siblings, a 64-year-old man and his 67-year-old sister who had complained of urinary urgency and sporadic incontinence and also progressive gait difficulty for 6 and 7 years respectively, had severely impaired deep sensations on direct[ncbi.nlm.nih.gov]
  • Log In or Register to continue Dec 16, 2016 Posted by in NEUROLOGY Comments Off on Gait Imbalance, Urinary Urgency, and Mild Cognitive Dysfunction – A Case of Adult Polyglucosan Body Disease[neupsykey.com]
  • Once exome sequencing becomes routine – say 5 years from now – a health care professional evaluating an adult with distal limb weakness, profound fatigue, and urinary urgency can pop a blood sample into a device that will quickly detect, or rule out,[blogs.plos.org]
  • One year later she had developed poor balance, frequent falls, tremor predominantly affecting her right hand, urinary urgency, and impaired concentration and episodic memory.[jnnp.bmj.com]
Mild Cognitive Impairment
  • A 62-year-old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6 years.[ncbi.nlm.nih.gov]
  • cognitive impairment over 6 years.[unboundmedicine.com]
  • They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonsance imaging of the brain revealed extensive white matter abnormalities in both.[eurekamag.com]
  • Some affected individuals may develop mild cognitive impairment, most commonly, mild attention and memory deficits. In some cases, cognitive problems may worsen, resulting in progressive loss of memory and intellectual abilities (dementia).[rarediseases.org]
Spastic Gait
  • Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy.[ncbi.nlm.nih.gov]
  • gait, and peripheral neuropathy.[research.vu.nl]
  • From the neurological point of view, blindness, unsteady and spastic gait, spasticity of inferior limbs were present. A computerized tomography scan revealed gross calcifications of basal ganglia and cerebellar nuclei.[docplayer.it]
Limb Weakness
  • Bulbar and limb weakness progressed, and she developed dementia. She died 6 years after onset. At autopsy, extensive polyglucosan body formation was found in many regions of the central nervous system.[ncbi.nlm.nih.gov]
  • Once exome sequencing becomes routine – say 5 years from now – a health care professional evaluating an adult with distal limb weakness, profound fatigue, and urinary urgency can pop a blood sample into a device that will quickly detect, or rule out,[blogs.plos.org]
Resting Tremor
  • REPORT OF A CASE A 46-year-old woman initially presented with a 4-year history of resting tremor. The tremor responded to levodopa therapy.[ncbi.nlm.nih.gov]
  • In her limbs she had a coarse resting tremor, most marked in the right arm with no associated cerebellar signs but cogwheeling rigidity and bradykinesia.[jnnp.bmj.com]
Neurologic Manifestation
  • Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction.[ncbi.nlm.nih.gov]

Workup

  • Clinical Testing and Workup Direct examination of tissue by a pathologist (electron and light microscopy) can help reach a definitive diagnosis.[rarediseases.org]
  • As part of my workup, I underwent several tests to include additional MRI’s and EMG. After evaluating the test results they noted evidence of lumbosacral polyradiculopathy.[apbdrf.org]
  • […] of glycosphingolipids insidious dementia in middle or later life deficiency in beta-galactosidase deposition of glycosphingolipids in blood vessels walls in the brain, in the kidney, heart, peripheral nerves and other organs to be considered in the workup[docplayer.it]
Gliosis
  • Autopsy revealed atrophy of the cord, diffuse gliosis, and numerous corpora amylacea.[ncbi.nlm.nih.gov]
  • Autopsy revealed atrophy of the cord, diffuse gliosis, and numerous corpora amylacea. Lippincott-Raven Publishers. Related Articles[journals.lww.com]
  • RM: leucoencephalopathy and basal ganglia calcification at CT White matter sclerosis, with myelin loss, astrocytic increase and fibrillar gliosis Cases mainly in Japan and Finland.[docplayer.it]

Treatment

  • Management and treatment Treatment requires a multidisciplinary team including specialists in physical medicine rehabilitation, psychology and urology.[orpha.net]
  • Treatment of adult polyglucosan body disease generally requires a Multidisciplinary approach and may include physicians, physical therapists, medical social workers, and nurses.[medigoo.com]
  • Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]
  • Help Raise Funds for Vital APBD Research Currently, there is no treatment or cure for APBD. Adults are impacted in the prime of life, and the debilitating symptoms progress relentlessly. This is a powerful opportunity to advance research![milliondollarbikeride.org]
  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.com]

Prognosis

  • Prognosis The prognosis is variable depending on the severity of the disease and the level of care given to patients. In most cases it does not decrease life-expectancy but quality of life is most definitely affected.[orpha.net]
  • The other subtypes vary in their age of onset and severity; several result in a more severe phenotype with death in early infancy, and others develop later in childhood and generally have a better prognosis.[sema4genomics.com]
  • The prognosis is variable depending on the severity of the disease and the level of care given to patients. In most cases it does not decrease life-expectancy but quality of life is most definitely affected.[medigoo.com]
  • Ettore Salsano and Davide Pareyson, Leukodystrophies, Prognosis of Neurological Diseases, 10.1007/978-88-470-5755-5_14, (163-175), (2015).[doi.org]
  • Despite a grim prognosis, he went on to have a normal childhood and later a family. He thought he was fine, but in his early 30s his health took a turn for the worst. "For the longest time I didn't know how to explain what was going on with me.[hawaiinewsnow.com]

Etiology

  • A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented.[ncbi.nlm.nih.gov]
  • Conclusions: It is important to consider APBD in cases of familial dementia of unknown etiology. Ante-mortem biopsy of axillary skin may be diagnostic.[scholars.northwestern.edu]
  • Etiology APBD is caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE).[orpha.net]

Epidemiology

  • One mutant allele of this gene, GBE1 c.1076A C, has been reported in Ashkenazi Jewish cases of an adult-onset form of GSD type IV, adult polyglucosan body disease (APBD), but no epidemiological analyses of this mutation have been performed.[ncbi.nlm.nih.gov]
  • Summary Epidemiology The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals.[orpha.net]
  • […] progression varies significantly from person to person. [4] [6] There is not good data on outcomes; it appears that APBD likely leads to earlier death, but people with APBD can live many years after diagnosis with relatively good quality of life. [4] Epidemiology[en.wikipedia.org]
  • Lepor H (2004) Pathophysiology, epidemiology, and natural history of benign prostatic hyperplasia. Rev Urol 6(S9):3–10 Google Scholar Copyright information Springer-Verlag Berlin Heidelberg 2015 Authors and Affiliations Mark A.[link.springer.com]
  • Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology[neuromuscular.wustl.edu]
Sex distribution
Age distribution

Pathophysiology

  • Since brain glycogen is almost exclusively metabolized in astrocytes, this observation sheds light on the pathophysiology of APBD. In addition, this is the first report of an APBD patient presenting with a subacute diaphragmatic failure.[ncbi.nlm.nih.gov]
  • Lepor H (2004) Pathophysiology, epidemiology, and natural history of benign prostatic hyperplasia. Rev Urol 6(S9):3–10 Google Scholar Copyright information Springer-Verlag Berlin Heidelberg 2015 Authors and Affiliations Mark A.[link.springer.com]
  • Pathophysiology Deficient glycogen-branching enzyme activity results in the formation of abnormal glycogen with long, unbranched outer chains and decreased solubility.[emedicine.medscape.com]
  • Insights into the pathophysiology of Pompe disease. Clin Ther 2008;30 Suppl 1:S3. McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD:The Johns Hopkins University;Entry No:232300. Available at:[rarediseases.org]
  • […] dysfunction Neuropathic pain Episodic pain crises (triggered, for example, by warming) Acroparaesthesiae Impaired temperature sensation Hypohidrosis Intestinal dysmotility (including abdominal pain and diarrhoea) Peripheral vasomotor dysregulation 31 Pathophysiology[docplayer.it]

Prevention

  • Prevention of secondary complications: Gait aids to prevent falls and urologic management to prevent urosepsis. Surveillance: Periodic assessment of bladder function, gait, sensation in the distal lower extremities, and cognition.[medigoo.com]
  • Follow up is needed to monitor bladder function and prevent urosepsis as well as assess levels of cognition, sensation in the distal lower extremities and gait function.[orpha.net]
  • […] sequence Causes decrease in fetal movement and stiffness of joints after birth Infants have low muscle tone and muscle wasting Do not survive past newborn stage due to weakened heart and lungs Develops in early infancy Babies have dilated cardiomyopathy, preventing[en.wikipedia.org]

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