| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
13 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Other |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
PNPLA2, C.231_232INS? (P.LYS78FS). THIS SEQUENCE CHANGE INSERTS A LARGE FRAGMENT OF DNA, LIKELY A TRANSPOSABLE ELEMENT, IN EXON 3 OF THE PNPLA2 GENE C.231_232INS?, CAUSING A FRAMESHIFT AT CODON 78 (P.LYS78FS), IN WHICH THE INSERTION IS EXPECTED TO RESULT IN AN ABSENT OR DISRUPTED PROTEIN PRODUCT. THIS MUTATION IS ASSOCIATED WITH AUTOSOMAL RECESSIVE NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY. |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| 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: |
PROXIMAL AND DISTAL BILATERAL MUSCLE WEAKNESS, TONE, AND MASS AND IS PROGRESSIVE; SUBSTANTIAL REDUCTION OF PROXIMAL SHOULDER-GIRDLE WEAKNESS; SHOULDER AND HAND WEAKNESS ON LEFT ARM; WEAK DIGITALS, RIGHT HAND DOMINANT AND WITH TROUBLE, STARTED USING LEFT HAND TO PERFORM COMMON TASKS; WEAK LOWER EXTREMITIES AND UNABLE TO CLIMB STAIRS WITHOUT ASSISTANCE; WADDLING GAIT, WIDE-BASED, AND STRUGGLES WITH COMMON MOVEMENTS; NORMAL RANGE OF MOTION IN JOINTS OF EXTREMITIES; DECREASED MUSCLE MASS AND STRENGTH AT HIPS WITH HIP ADDUCTION, HAMSTRINGS, AND CALVES WITH RELATIVE PRESERVATION OF QUADS; DECREASED NECK ABDUCTION AND ROTATION; PRESERVED COORDINATION AND SENSITIVITY |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Additional Information: |
CHILDHOOD STOMACH FLU LIKE SYMPTOMS AND WAS FOUND TO HAVE ELEVATED LIVER ENZYMES AND CREATINE KINASE; ABDOMINAL MRI SHOWED HEPATIC DOME LESION (CYSTS/HEMANGIOMA) |
| 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 |
| Neurological Testing: |
NORMAL NEUROLOGICAL EXAM |
| Musculoskeletal and Developmental Testing: |
MRI ON RT SHOULDER REVEALED MUSCLE ATROPHY WITH FATTY INFILTRATION; MRI ON LEG REVEALED LIPID IN MUSCLE - FATTY ATROPHY IN SOLEUS REGION AND MEDIAL HEAD OF THE GASTROCNEMIUS; NORMAL CERVICAL IAND THORACIC SPINE; PHYSICAL EXAM SHOWED PARTIAL EXTENSION OF FINGERS (2ND TO 4TH ON RIGHT HAND AND THE 5TH FINGER'S PROXIMAL INTERPHALANGEAL JOINT AND MIDDLE FINGER ON THE LEFT HAND); ABSENT BRACHIORADIALIS AND BABINSKI REFLEXES |
| Respiratory and Cardiovascular Testing: |
NORMAL ECHO AND ECG; NORMAL CARDIAC MRI |
| Metabolic, Hematologic, and Endocrinologic Testing: |
NORMAL LIPID PROFILE; NORMAL AMYLASE, LIPASE, CHOLESTEROL, AND TRIGLYCERIDES; ELEVATED MEAN PLATELET VOLUME (MPV), ADOLASE, LACTATE DEHYDROGENASE, ASPARTATE AMINOTRANSFERASE, ALANINE TRANSAMINASE, 30H-BUTYRATE,BUN/CREATINE RATIO, POTASSIUM, CHLORIDE, IRON, AND MYOGLOBIN; LOW CREATINE AND ALBUMIN SPE; CREATINE KINASE (CK-MB) HIGH AND CK-MM LOW; ADIPOSE TRIGLYCERIDE LIPASE (ATGL) DEFICIENCY |
| Uncategorized Testing: |
CULTURED FIBROBLASTS SHOWED INTRACELLULAR LIPID DROPLETS |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
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| Additional Testing: |
WORKS WITH PERSONAL TRAINER FOR STRENGTH WORKOUTS; MYOFASCIAL MANIPULATIONS IMPROVED ARM MOVEMENT WITH ELEVATED CK, C4 BUTYRYL/ISOBUTYRYL-CARNITINE,AND MB LEVELS; ACUPUNCTURE |
| Medications |
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MEDIUM CHAIN TRIGLYCERIDE CAPSULES (CNT-02) WITH NO IMPROVEMENT; MIBELAS 24 FE 1-20 MG-MCG(24) CHEWABLE |
| Family History |
| Remarks |
See "phenotypic data tab" |