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1.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
2.

Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [from HPO]

MedGen UID:
326544
Concept ID:
C1839630
Finding
3.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
4.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
5.

Myotubular myopathy

MedGen UID:
104495
Concept ID:
C0175709
Disease or Syndrome
6.

Severe X-linked myotubular myopathy

X-linked centronuclear myopathy (XLCNM) (also known as myotubular myopathy [MTM]) is characterized by muscle weakness that ranges from severe to mild. Severe (classic) XLCNM presents prenatally with polyhydramnios and decreased fetal movement and in newborns with weakness, hypotonia, and respiratory distress. Affected males have significantly delayed motor milestones and most fail to achieve independent ambulation. Weakness is profound and often involves facial and extraocular muscles. Respiratory failure is nearly uniform, with most affected individuals requiring 24-hour ventilatory assistance. A minority of males with severe XLCNM die in infancy. Males with moderate XLCNM achieve motor milestones more quickly than males with the severe form; about 40% require no ventilator support or intermittent support. Males with mild XLCNM may require ventilatory support only in the newborn period; they have minimally delayed motor milestones, are able to walk, and may lack myopathic facies. The muscle disease of XLCNM is not obviously progressive. Female carriers of XLCNM are generally asymptomatic, although rare manifesting heterozygotes have been described. [from GeneReviews]

MedGen UID:
98374
Concept ID:
C0410203
Congenital Abnormality
7.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
8.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
9.

Congenital Structural Myopathy

A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. [from MeSH]

MedGen UID:
156050
Concept ID:
C0752282
Disease or Syndrome
10.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
11.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
12.

Weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
13.

Myopathy, centronuclear, 4

Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.
[from GHR]

MedGen UID:
766623
Concept ID:
C3553709
Disease or Syndrome
14.

Alive

MedGen UID:
749206
Concept ID:
C2584946
Finding
15.

Moderate

Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
525853
Concept ID:
C0205081
Qualitative Concept
16.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI_NCI-GLOSS]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
17.

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [from HPO]

MedGen UID:
346841
Concept ID:
C1858120
Finding
18.

Generalized muscle weakness

Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. [from HPO]

MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
19.

Generalized

Affecting all regions without specificity of distribution. [from HPO]

MedGen UID:
104661
Concept ID:
C0205246
Spatial Concept
20.

Muscular hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. [from HPO]

MedGen UID:
10133
Concept ID:
C0026827
Finding; Finding
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