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]

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. [mayoclinic.pure.elsevier.com]

We found one other case of APBD in the literature that presented with a heterozygous Tyr329Ser mutation. [theassr.org]

• 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]

• 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]

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]

• Glycosuria

  Including glycogen storage diseases (GSD) Sucrose, transport (extracellular) Disaccharide catabolism Congenital alactasia Sucrose intolerance Monosaccharide transport Glucose-galactose malabsorption Inborn errors of renal tubular transport ( Renal glycosuria [maria-online.com]

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]

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]

Our work paves the way to discovering medications for the treatment of PB-involving GSD, which are extremely severe or fatal disorders. © 2017 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society. [ncbi.nlm.nih.gov]

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]

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]

Chien, Y.H., et al., Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics, 2009. 124(6): p. e1116-25. 19. [rarediseases.org]

Conclusions: It is important to consider APBD in cases of familial dementia of unknown etiology. [scholars.northwestern.edu]

A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented. [unboundmedicine.com]

CONCLUSIONS: It is important to consider APBD in cases of familial dementia of unknown etiology. Ante-mortem biopsy of axillary skin may be diagnostic. [ncbi.nlm.nih.gov]

[…] impairment white matter abnormalities (MRI) polyglucosan bodies (round intracellular inclusions) found in neuronal and astrocytic processes peripheral neuropathy distal sensory impairment paresthesias Onset after age 40 years Slowly progressive disease Etiology [humpath.com]

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]

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]

[…] 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]

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]

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: http://omim.org/entry/232300 [rarediseases.org]

Pathophysiology Deficient glycogen-branching enzyme activity results in the formation of abnormal glycogen with long, unbranched outer chains and decreased solubility. [emedicine.medscape.com]

[…] 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 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]

No treatment apart from liver transplantation has been found to prevent progression of the disease. Most children with this condition die before two years of age. [agsd.org.uk]

[ edit ] APBD can only be prevented if parents undergo genetic screening to understand their risk of producing a child with the condition; if in vitro fertilization is used, then preimplantation genetic diagnosis can be done to identify fertilized eggs [en.wikipedia.org]