Congenital myopathy with internal nuclei and atypical cores

Orpha code: 319160OMIM code: 614807

Definition

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

Disease data
Classification

Disease

Synonyms
CNM4
CNM4
Miopatia z ośrodkowo ułożonymi jądrami typu 4
Centronuclear myopathy type 4
ORPHA code
319160
OMIM code
614807
ICD10 code
G71.2
ICD11 code
-

No additional description.

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