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Muscular hypertonia, lethal

MedGen UID:
342600
Concept ID:
C1850827
Disease or Syndrome
Synonym: Muscular Hypertonia, Lethal
 
Monarch Initiative: MONDO:0009684
OMIM®: 254120

Clinical features

From HPO
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Hypokinesia
MedGen UID:
39223
Concept ID:
C0086439
Finding
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.

Recent clinical studies

Diagnosis

Rosenbaum HK, Miller JD
Anesthesiol Clin North Am 2002 Sep;20(3):623-664. doi: 10.1016/s0889-8537(02)00011-1. PMID: 12298310
Birkhimer LJ, DeVane CL
Drug Intell Clin Pharm 1984 Jun;18(6):462-5. doi: 10.1177/106002808401800601. PMID: 6145570

Therapy

Birkhimer LJ, DeVane CL
Drug Intell Clin Pharm 1984 Jun;18(6):462-5. doi: 10.1177/106002808401800601. PMID: 6145570
Hewett C, Kreuzer H, Köllmer H, Niggeschulze A, Stötzer H
Br J Clin Pharmacol 1983;16 Suppl 2(Suppl 2):267S-274S. doi: 10.1111/j.1365-2125.1983.tb02299.x. PMID: 6686462Free PMC Article

Clinical prediction guides

Rosenbaum HK, Miller JD
Anesthesiol Clin North Am 2002 Sep;20(3):623-664. doi: 10.1016/s0889-8537(02)00011-1. PMID: 12298310
Hewett C, Kreuzer H, Köllmer H, Niggeschulze A, Stötzer H
Br J Clin Pharmacol 1983;16 Suppl 2(Suppl 2):267S-274S. doi: 10.1111/j.1365-2125.1983.tb02299.x. PMID: 6686462Free PMC Article

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