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]

• 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]

• Pallor

  […] described the case with later onset and duration in a women with weacknes at 40 years, with very slow evolution, without psychic changes at the age of 73 Demyelinating polyneuropathy and leucoencephalopathy at MR It has to be considered in any patient with pallor [docplayer.it]

• Wheelchair Bound

  By age 62 years, 50% of patients were likely to need a walker, and by the median age of 63 years they needed a wheelchair for ambulation. [ncbi.nlm.nih.gov]

• Constipation

  A 70 year old man presented with progressive weakness in all extremities, dementia, and constipation about one year ago. [synapse.koreamed.org]

  Constipation, bladder dysfunction, and impotence began 20 years before the present evaluation. Foot numbness and tingling, leg weakness, and imbalance followed 10 years later, after a myelographic procedure. [thefreelibrary.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]

• 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]

• Seizure

  He had no family history of neurological disease and no history of seizure or toxin exposure. [synapse.koreamed.org]

  Neurontin, prednisone, anti-seizure meds. Or perhaps more than one illness is at play – benign prostatic hyperplasia might explain the urination changes, a neuropathy the distal limb numbness. [blogs.plos.org]

  Role in phosphorylation/dephosphorylation reactions controlling glycogen metabolism Mutation: Leads to hyperphosphorylated glycogen and polyglucosan formation NHLRC1 protein: E3 ubiquitin ligase Clinical Onset: Adolescence Cortical: Seizures; Myoclonus [neuromuscular.wustl.edu]

  Less common manifestations include cerebellar dysfunction, isolated dementia of the frontal lobe type, extrapyramidal signs, seizures, an amyotrophic lateral sclerosis-like disorder, and entrapment neuropathy.[2,3,5] Polyglucosan bodies are the pathologic [thefreelibrary.com]

  Less common manifestations include cerebellar dysfunction, isolated dementia of the frontal lobe type, extrapyramidal signs, seizures, an amyotrophic lateral sclerosis-like disorder, and entrapment neuropathy.2,3,5 Polyglucosan bodies are the pathologic [the-medical-dictionary.com]

• Absent Ankle Reflex

  Consistent signs at diagnosis were spasticity in the legs (93 %), decreased or absent ankle reflexes (100 %), bilateral extensor plantar response (100 %) and distal sensory deficit (80 %). [ncbi.nlm.nih.gov]

  Tendon reflexes were normal, except for absent ankle reflexes. Tone was decreased in the lower extremities and a Babinsky sign was present bilaterally. [thefreelibrary.com]

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

• 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]

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]