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Myopathy, distal, infantile-onset

MedGen UID:
860162
Concept ID:
C4011725
Disease or Syndrome
Synonym: MYOPATHY, DISTAL, INFANTILE-ONSET
 
Monarch Initiative: MONDO:0008049
OMIM®: 160300

Clinical features

From HPO
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Steppage gait
MedGen UID:
98105
Concept ID:
C0427149
Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Calf muscle hypertrophy
MedGen UID:
335868
Concept ID:
C1843057
Finding
Muscle hypertrophy affecting the calf muscles.
Increased connective tissue
MedGen UID:
400898
Concept ID:
C1866021
Finding
The presence of an abnormally increased amount of connective tissue.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Recent clinical studies

Prognosis

Schänzer A, Görlach J, Claudi K, Hahn A
Neuromuscul Disord 2019 Jun;29(6):477-482. Epub 2019 Mar 14 doi: 10.1016/j.nmd.2019.03.004. PMID: 31101460
Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG
Neuromuscul Disord 2009 Jun;19(6):418-22. Epub 2009 May 9 doi: 10.1016/j.nmd.2009.04.004. PMID: 19433360Free PMC Article
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R
Neuromuscul Disord 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. PMID: 11166161

Clinical prediction guides

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG
Neuromuscul Disord 2009 Jun;19(6):418-22. Epub 2009 May 9 doi: 10.1016/j.nmd.2009.04.004. PMID: 19433360Free PMC Article
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R
Neuromuscul Disord 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. PMID: 11166161

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