| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
33 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
18 YR |
| Age at Diagnosis(If not a control) |
32 YR |
| Racial Category |
Asian |
| Country |
INDIA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NGS FOCUSED EXOME (6000 GENES) SEQUENCING AND DELETION DUPLICATION ANALYSIS REVEALED A HETEROZYGOUS PATHOGENIC VARIANT (AR) IN EXON 6 OF THE SURF1 GENE (NM_003172.3, CHR9:136219602-138219605, RS1057517942): C.532_535DEL
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| Zygosity: |
Heterozygous |
| Other variants: |
HETEROZYGOUS VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE COL6A1, LARGE, AND MYH2 GENES; COL6A1 (NM_001848.2, CHR21:47417629-47417629, RS760275915): C.1477C>A (P.PRO493THR) IN EXON 22; LARGE (NM_004737.4, CHR22:34046370-34046370, RS56239539): C.391G>A (P.VAL131ILE) IN EXON 4; AND MYH2 (NM_017534.5, CHR17:10429936-10429986, RS374190003): C.4117G>A (P.GLU1373LYS) IN EXON 30 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 YEARS |
| Age at Diagnosis: |
32 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: |
LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD); SCAPULAR WINGING; PROGRESSIVE PROXIMAL WEAKNESS; POSITIVE KILLEY SIGN; HMF; LONG ANTERIOR AND PROXIMAL AXILLARY FOLDS; WASTED THIGH MUSCLE, R>L; PSEUDOHYPERTROPHY OF CALVES; EXTENSOR DIGITORUM BREVIS (EDB) HYPERTROPHY; TRUNCAL WEAKNESS; POSITIVE GOWER SIGN; NO PIH OF PAIN IN THE HIPS OR SHOULDERS; DIFFICULTY CLIMBING |
| 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 |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
NERVE CONDUCTION STUDIES; ELECTROPHYSIOLOGY/EMG TEST RESULT: DEMYELINATIVE TYPE SYMMETRIC MOTOR AXONOPATHY OF BOTH LL WITH E/O RADICULOPATHY; NORMAL MOTOR CONDUCTION WITH NORMAL DELAYED RESPONSES IB BOTH UL; MYOPATHIC AND DENERVATION PATTERN IN EMG |
| Metabolic, Hematologic, and Endocrinologic Testing: |
INCREASED CREATINE PHOSPHOKINASE (CPK), 5017 U/L; NORMAL ERYTHROCYTE SEDIMENTATION RATE (ESR); HYPERCKEMIA |
| Treatments and Assistive Devices |
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Physical therapy
Wheelchair or ambulation devices
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| Medications |
| Family History |
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SINGLE CHILD OF CONSANGUINEOUS PARENTAGE; NO FAMILY HISTORY OF DISEASE |
| Remarks |
Clinically affected; see "Phenotypic Data" tab. |