"V体育2025版" Adult polyglucosan body disease
- Synonyms
- POLYGLUCOSAN BODY DISEASE, ADULT FORM
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, autonomic dysfunction (associated with orthostatic hypotension and constipation), and mild cognitive difficulties (often executive dysfunction). Some affected individuals without classic GBE1-APBD have atypical phenotypes including Alzheimer disease-like dementia and axonal neuropathy, stroke-like episodes, and diaphragmatic failure; others may have a history of infantile liver disease.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- H Orhan Akman
- Alexander Lossos
- Or Kakhlon
- view full author information
Available tests
40 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (40 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: APBD, GBE, GSD4, GBE1
Summary: 1,4-alpha-glucan branching enzyme 1
Clinical features
Help- Abnormality of limbs
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- "VSports注册入口" Abnormal upper motor neuron morphology
- "V体育安卓版" Cognitive impairment
- Distal sensory impairment
- Gait disturbance
- Increased CSF protein concentration
- Orthostatic hypotension
- VSports最新版本 - Paresthesia
- Peripheral axonal neuropathy
- Spastic paraplegia
- Tetraparesis (VSports手机版)
- Constitutional symptom
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