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

Progressive spasticity and weakness are also present due to upper and lower motor neuron involvement and patients have difficulty walking. [orpha.net]

We report here a novel presentation of this disease in a 35-year old woman who presented with an acute deterioration followed by an unexpected recovery. Enzymatic analysis displayed decreased GBE activity in leukocytes. [ncbi.nlm.nih.gov]

Atrophy of the medulla and spine was universal. p.Y329S was the most common GBE1 mutation, present as a single heterozygous (28%) or homozygous (48%) mutation. [research.vu.nl]

• Weakness

  The inability to breakdown glycogen in muscle cells causes muscle weakness. The probable end result is cirrhosis and death within 5 years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life. [en.wikipedia.org]

  The clinical features included muscle weakness, sensory disturbances, neurogenic bladder, dementia, and cataracts. [ncbi.nlm.nih.gov]

• Pain

  […] on endovascular neuroradiology, parkinsonian syndromes, Lewy body dementias, frontotemporal dementia, vanishing white matter, vasculitis, normal pressure hydrocephalus, neuromyelitis optica, Kennedy disease, spinal muscular atrophy, complex regional pain [books.google.com]

  P – Peripheral neuropathy (numbness or tingling or pain in any of the following: toes, feet, calves, fingers, hands, arms) B – Bladder dysfunction (frequency more than normal or bladder control problems) D – Decreased energy, or sleep needed more often [milliondollarbikeride.org]

  […] life by interfering with the ability to work, mobility, and independence– A – Adult onset, Ashkenazi Jewish ancestry Although most patients are of Ashkenazi Jewish descent, it is pan-ethnic– P – Peripheral neuropathy Numbness, weakness, stiffness, and pain [apbdrf.org]

  Additionally, he complained of bilateral shoulder pain and urinary frequency but did not mention any other urinary symptoms, such as incontinence. He had no family history of neurological disease and no history of seizure or toxin exposure. [synapse.koreamed.org]

  Common hereditary enzyme deficiency causing varying degrees of hemolytic anemia; can cause favism, some drug induced hemolytic anemias, and chronic nonspherocytic hemolytic anemia Glycogenosis due to muscle phosphorylase deficiency; characterized by painful [icd9data.com]

• Falling

  Symptoms usually appear between the ages of 30 and 60 and can include: Numbness and tingling in the legs Spasticity The symptoms above can cause an unsteady gait, poor balance, and an increased risk of falling. [huntershope.org]

  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]

  Zimbabwe : Bulawayo, Harare, Mutare, Victoria Falls, etc. [maria-online.com]

  I was falling down when I was riding my bike or going for leisurely jogs. I have problems urinating," Akina said. The unusual combination of symptoms baffled doctors. [hawaiinewsnow.com]

  It is important to make changes that enable us to live our lives without causing injury due to falls and improper or sudden movements. [apbdrf.org]

• Difficulty Walking

  Progressive spasticity and weakness are also present due to upper and lower motor neuron involvement and patients have difficulty walking. [orpha.net]

  Of note, bladder dysfunction is often the initial symptom, sometimes starting 1 or 2 decades before any difficulty walking or sensory deficit. [ncbi.nlm.nih.gov]

  Eventually, affected individuals may develop progressively increased muscle tone and stiffness of the legs (spasticity), causing difficulty walking. [rarediseases.org]

• Asymptomatic

  Predictive testing for at-risk asymptomatic adult family members requires prior identification of the pathogenic variants in the family. [ncbi.nlm.nih.gov]

  Associated with skewed X-inactivation PGK activity 50% to 100% in asymptomatic carriers Hemizygous asymptomatic male: 2% of control mean PGK activity Phosphoglycerate Mutase deficiency (Glycogen storage disease X; GSDX; GSD 10) 20 ● Phosphoglycerate mutase [neuromuscular.wustl.edu]

  These heterozygous patients should be asymptomatic carriers, yet they manifest symptoms of the disease and have been labeled as “manifesting heterozygotes”. These patients also have no other mutation in the 16 exons of the gene. [rarediseases.org]

• Muscle Weakness

  weakness and hypotonia Survive into adulthood Life expectancy varies on severity of symptoms Develops in late childhood Has myopathy and dilated cardiomyopathy Varies greatly Some have mild muscle weakness Some have severe cardiomyopathy and die in early [en.wikipedia.org]

  The clinical features included muscle weakness, sensory disturbances, neurogenic bladder, dementia, and cataracts. [ncbi.nlm.nih.gov]

  weakness and stiffness (spasticity), increasing difficulty starting or stopping the flow of urine (neurogenic bladder), fatigue, and — in about half of the cases — cognitive difficulties. [apbdrf.org]

  Problems walking Sensory loss in the legs Muscle weakness and stiffness that gets progressively worse Difficulty controlling the flow of urine (neurogenic bladder) that gets progressively worse Mild decline in intellectual function, or dementia Neurogenic [patientworthy.com]

  Initial symptoms include numbness in the toes and feet and progressive muscle weakness and stiffness. In addition, patients experience urinary frequency that far exceeds the norm. [chanzuckerberg.com]

• Suggestibility

  We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease. [ncbi.nlm.nih.gov]

• Incontinence

  Adult polyglucosan body disease (APBD) is a rare neurological disorder of unknown cause characterized by four manifestations: upper motor neuron signs, peripheral neuropathy with motor and sensory loss, urinary incontinence, and dementia. [ncbi.nlm.nih.gov]

  Background: Adult polyglucosan body disease (APBD) is a rare disorder, presenting with varying combinations and severity of upper and lower motor neuron dysfunction, sensory deficits, dementia, and urinary incontinence. Onset is in the 40s or 50s. [scholars.northwestern.edu]

• Urinary Incontinence

  Adult polyglucosan body disease (APBD) is a rare neurological disorder of unknown cause characterized by four manifestations: upper motor neuron signs, peripheral neuropathy with motor and sensory loss, urinary incontinence, and dementia. [ncbi.nlm.nih.gov]

  Clinical description APBD presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. [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]

• Peripheral Neuropathy

  Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. [humpath.com]

  Common misdiagnoses included cerebral small vessel disease (27 %), multiple sclerosis (17 %), amyotrophic lateral sclerosis (17 %) and peripheral neuropathies (20 %). Consequently, 27 % received inappropriate therapy. [ncbi.nlm.nih.gov]

• 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]

  […] pathologie Extrapyramidal syndrome Homme Maladie dégénérative Mouvement involontaire Système nerveux central pathologie Système nerveux pathologie Trouble neurologique Keyword (en) Adult Lewy body Differential diagnostic Case study Female Parkinson disease Tremor [pascal-francis.inist.fr]

  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]

  Stitt, Ralitza Gavrilova, Robert Watson and Anhar Hassan, An unusual presentation of late-onset Alexander’s disease with slow orthostatic tremor and a novel GFAP variant, Neurocase, 10.1080/13554794.2019.1580749, 24, 5-6, (266-268), (2019). [doi.org]

  Adult polyglucosan body disease associated with Lewy bodies and tremor. Arch Neurol. 2003;60:764-66. http://www.ncbi.nlm.nih.gov/pubmed/12756142 Leel-Ossy L. New data on the ultrastructure of the corpus amylaceum (polyglucosan body). [rarediseases.org]

• 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]

  Mild cognitive impairment may occur and some will develop dementia. Cause Mutations in the GBE1 gene cause this disease. The GBE1 creates a glycogen branching enzyme which is involved in producing a sugar called glycogen, a source of stored energy. [alextlc.org]

  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]

• Paresthesia

  […] disturbance upper motor neuron signs pyramidal tetraparesis cognitive impairment white matter abnormalities (MRI) polyglucosan bodies (round intracellular inclusions) found in neuronal and astrocytic processes peripheral neuropathy distal sensory impairment paresthesias [humpath.com]

  Results A 50 year-old male of Ashkenazi Jewish descent presented with a three year history of progressive gait unsteadiness, bladder urgency and frequency, bilateral paresthesias of the feet, and proximal leg weakness. [theassr.org]

  Another common early sign of APBD disease is a feeling of numbness or weakness in the hands and feet (paresthesia). [rarediseases.org]

• Tingling

  Symptoms usually appear between the ages of 30 and 60 and can include: Numbness and tingling in the legs Spasticity The symptoms above can cause an unsteady gait, poor balance, and an increased risk of falling. [huntershope.org]

  Tool Boxes Articles of Interest Powerpoints Newsletter Archive Brochures APBD and GSD IV Guideline Get involved Volunteer Donate Registry Home » Understanding APBD » APBD Signs and Symptoms APBD Signs and Symptoms APBD symptoms include numbness and tingling [apbdrf.org]

  P – Peripheral neuropathy (numbness or tingling or pain in any of the following: toes, feet, calves, fingers, hands, arms) B – Bladder dysfunction (frequency more than normal or bladder control problems) D – Decreased energy, or sleep needed more often [milliondollarbikeride.org]

  Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). [medlineplus.gov]

Clinical Testing and Workup Direct examination of tissue by a pathologist (electron and light microscopy) can help reach a definitive diagnosis. [rarediseases.org]

Management and treatment Treatment requires a multidisciplinary team including specialists in physical medicine rehabilitation, psychology and urology. [orpha.net]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.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]

[…] 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]

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. [scholars.northwestern.edu]

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]

[…] of 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]

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]