Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; increasing contractures in feet, legs, and hands since teenage years; increasing tightness of fingers over many years; increasing weakness in feet; wheelchair bound for past 3-5 years; dorsal and popliteal pulses unable to be felt; fairly marked contractures of both Achilles tendons; unable to move toes; significant contractures of fingers on both hands, specifically fexion contractures of the third, fourth, and fifth fingers but flexion of the thumb and flexion and extension of the index finger were preserved; unable to elicit any deep tendon reflexes; no pinprick sensation below the mid-forearm; partial sensation to pinprick between mid-forearm and shoulder; normal pinprick on the medial side of the thighs but none on the lateral aspect; no pinprick sensation below knees; unable to raise left leg against gravity; able to raise right knee against gravity but not the heel; able to extend arms 90 degrees; good strength for extension and flexion at elbow; complete atrophy of the intrinsic muscles of both hands; forearm muscles considerably wasted; no palpable enlargement of any peripheral nerves; history of myocardial infarctions, high blood pressure, edema of the legs with secondary stasis dermatitis and ulceration of the foot, and brain hemorrhage at age 29; affected daughter is GM05168; see GM05165 fibroblast |
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