Link to ALDA - Automated LGMD Diagnostic

Jain Foundation Assistant

Patient ID: 72

Report by: Test (test@gmail.com)

Report: Probability and Concordance

Disease Probability Concordance
Pompe 49.46 Low
DGs (LGMD2K, 2M-P, ISPD) 28.46 Low
Bethlem 10.80 Low
Note: The concordance score measures how
closely a patient's symptoms (based on the
questionnaire) correspond to the typical
presentation of the disease based on the medical
literature. It differs from the probability score,
which predicts the most likely diagnoses based on
the patient's symptoms.
Recommendations
NOTE: The above links are for facilities in the US. If you are a physician outside of the US, you should look for the
availability of these tests/services in your home country.
Patient data

Patient Gender: Male

Parental Consanguinity: Yes
Family History: Yes
Patient Family symptoms </b><br></span><span>: </span><span>:
<b>None</b><br /></span>
Age of onset of symptoms: Before 5 yrs
Distal weakness: Primarily
Facial weakness: Yes
Cardiac involvement: Yes
Breathing Difficulties: Yes
Central Nervous System: Affected
Scapular Winging: Pronounced
Calf Hypertrophy: Pronounced
Pain/Cramps: Cramps/Exercise intolerance
Joint Contractures: Pronounced
Asymmetry of Weakness/Wasting: Pronounced
Biopsy: Dystrophic: Yes
Biopsy: Inflammation : Yes
Biopsy: Vacuoles/Inclusion Bodies :
Rate of Progression: Rapid
Eyes: Affected
CK Test Result: Not Measured
Age of onset of symptoms: Before 5 yrs
Distal weakness: Primarily
Facial weakness: Yes
Cardiac involvement: Yes
Breathing Difficulties: Yes
Central Nervous System: Affected
Scapular Winging: Pronounced
Calf Hypertrophy: Pronounced
Pain/Cramps: Cramps/Exercise intolerance
Joint Contractures: Pronounced
Asymmetry of Weakness/Wasting: Pronounced
Biopsy: Dystrophic: Yes
Biopsy: Inflammation : Yes
Biopsy: Vacuoles/Inclusion Bodies :
Rate of Progression: Rapid
Eyes: Affected
CK Test Result: Not Measured
Toe walking/Achilles tendon contractures: Yes
Does the patient have a foot drop: Yes
Stand on toes: Unable
Quadriceps strength: More affected than other proximal leg muscles
Cardiac conduction defect: Yes
Dilated cardiomyopathy: Yes
Macroglossia (enlargement of tongue): Yes
Skin Affected: Yes
Head circumference: Abnormally Small
Brain White Matter or Cerebellar Abnormalities: Yes
Extremely flexible joints: Yes
Neck Weakness: Yes
Legs or arms more affected: Legs
Finger Contractures:Yes
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