| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 YR |
| Age at Diagnosis(If not a control) |
6 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
CANADA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SPAST, C.1413+1G>A, EXON 11 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
6 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
STIFF LEG MUSCLES |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
INTOEING (TOES POINT IN) |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Additional Testing: |
MASSAGE THERAPY |
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" Tab. Heterozygous for the pathogenic variant. c.1413+1G>A, in the SPAST gene. The variant affects the canonical +1 splice site of exon 11 and is likely to affect splicing. Unaffected mother is GM29368 (fibro) |