Total 47 clinical symptoms reported for Merosin deficient congenital muscular dystrophy
Absent muscle fiber merosin |
Lack of merosin protein in the muscle biopsy.
Synonyms:Absent merosin staining in muscle biopsy; Absent muscle fiber laminin alpha 2 |
Very frequent |
Congenital muscular dystrophy |
Synonyms:Muscular dystrophy, congenital |
Very frequent |
Gastroesophageal reflux |
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Synonyms:Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; Heartburn |
Very frequent |
Hypokinesia |
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.
Synonyms:Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements |
Very frequent |
Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Very frequent |
Inability to walk |
Incapability to ambulate.
Synonyms:Inability to walk; Non-ambulatory |
Very frequent |
Increased connective tissue |
The presence of an abnormally increased amount of connective tissue.
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Very frequent |
Motor delay |
A type of Developmental delay characterized by a delay in acquiring motor skills.
Synonyms:Delay in motor development; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development |
Very frequent |
Muscle fiber atrophy |
Synonyms:Muscle fiber degeneration; Muscle fibre atrophy |
Very frequent |
Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
Muscular dystrophy |
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
|
Very frequent |
Myositis |
A general term for inflammation of the muscles without respect to the underlying cause.
Synonyms:Muscle inflammation |
Very frequent |
Respiratory failure |
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Synonyms:Respiratory failure |
Very frequent |
Weak cry |
This section is currently in development.
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Very frequent |