Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis
Abstract
:1. Introduction
2. Case Report
- performing pulmonary function testing, detection of excessive daytime somnolence, nonrestorative sleep, episodes of syncope, near-syncope, palpitations, symptomatic or asymptomatic tachycardia or arrhythmias, or signs and symptoms of cardiac failure for cardiology evaluation (Level B).
- realization of periodic assessments by a physical and occupational therapist for symptomatic and preventive screening (Level B).
- combination of aerobic exercise with a supervised submaximal strength (Level C).
- practicing gentle, low-impact aerobic exercise (swimming, stationary bicycling) to improve cardiovascular performance, increase muscle efficiency, and lessen fatigue (Level C).
- adequate hydration, no exercise to exhaustion, and avoiding supramaximal, high-intensity exercise (Level C).
- detection of warning signs of overwork weakness and myoglobinuria, which include feeling weaker rather than stronger within 30 minutes after exercise, excessive muscle soreness 24–48 hours following exercise, severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath (Level B) [25].
3. Discussion
Author Contributions
Funding
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Gene | Variant | Zygosity | Variant Classification |
---|---|---|---|
KIF5A | c.2300C > G (p.Thr767Arg) | heterozygous | Uncertain Significance |
MYH2 | c.2840G > A (p.Arg947Lys) | heterozygous | Uncertain Significance |
POMT1 | c.1502G > C (p.Gly501Ala) | heterozygous | Uncertain Significance |
TRIM32 | c.1855C > T (p.Pro619Ser) | homozygous | Uncertain Significance |
Gene | Diagnosis | Phenotype |
---|---|---|
KIF5A (Kinesin heavy chain isoform 5A) | Autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003) |
|
Intractable neonatal myoclonus (MedGen UID: 934625) |
| |
Amyotrophic lateralsclerosis 25 (ALS25) (MedGen UID: 1534540) |
| |
MYH2 (Myosin-2) | Autosomal dominant and recessive inclusion body myopathy type 3 (MYPOP) (MedGen UID: 381340) |
|
POMT1(Protein O-mannosyl-transferase 1) | Autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553) |
|
Autosomal recessive muscular dystrophy-dystroglycanopathy type B1 (MDDGB1) (MedGen UID: 461765) |
| |
Autosomal recessive muscular dystrophy-dystroglycanopathy type C1 (MDDGC1) (MedGen UID: 332193) |
| |
TRIM32 (Tripartite motif containing 32) | Autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) |
|
Limb-girdle muscular dystrophy type 2H (LGMD2H) or Limb-girdle Muscular Dystrophy R8 (LGMDR8) (MedGen UID:78750) |
|
Term Name | Frequency | Presence in the Patient |
---|---|---|
Tall stature | Frequent | Not detected |
Mask-like facies | Very frequent | Not detected |
EMG abnormality | Very frequent | Detected |
Increased variability in muscle fiber diameter | Very frequent | Not conducted |
Myopathy | Very frequent | Detected |
Proximal muscle weakness in lower limbs | Very frequent | Detected |
Gait disturbance | Very frequent | Detected |
Waddling gait | Very frequent | Detected |
Elevated serum creatine kinase | Very frequent | Detected |
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Marchuk, M.; Dovbonos, T.; Makukh, H.; Semeryak, O.; Sharhorodska, Y. Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis. Brain Sci. 2021, 11, 1020. https://doi.org/10.3390/brainsci11081020
Marchuk M, Dovbonos T, Makukh H, Semeryak O, Sharhorodska Y. Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis. Brain Sciences. 2021; 11(8):1020. https://doi.org/10.3390/brainsci11081020
Chicago/Turabian StyleMarchuk, Margarita, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, and Yevheniya Sharhorodska. 2021. "Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis" Brain Sciences 11, no. 8: 1020. https://doi.org/10.3390/brainsci11081020