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1.

Myotubular myopathy

MedGen UID:
104495
Concept ID:
C0175709
Disease or Syndrome
2.

Centronuclear myopathy

MedGen UID:
880227
Concept ID:
CN235627
Finding
3.

Myopathy, centronuclear

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:
808086
Concept ID:
CN221282
Disease or Syndrome
4.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
5.

Neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [from HPO]

MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
6.

Neonatal onset

Onset of signs or symptoms of disease within the first 28 days of life. [from HPO]

MedGen UID:
344421
Concept ID:
C1855106
Finding
7.

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
8.

Autosomal recessive centronuclear myopathy

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:
98049
Concept ID:
C0410204
Congenital Abnormality; Disease or Syndrome
9.

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
10.

Ophthalmoparesis

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. [from HPO]

MedGen UID:
155551
Concept ID:
C0751401
Sign or Symptom
11.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
12.

Facial palsy

MedGen UID:
346972
Concept ID:
C1858719
Finding
13.

Generalized hypotonia

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

MedGen UID:
346841
Concept ID:
C1858120
Finding
14.

Centrally nucleated skeletal muscle fibers

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [from HPO]

MedGen UID:
330782
Concept ID:
C1842170
Finding
15.

Severe muscular hypotonia

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

MedGen UID:
326544
Concept ID:
C1839630
Finding
16.

Myopathy, centronuclear, 1

Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM3 (614408), caused by mutation in the MYF6 gene (159991) on chromosome 12q21; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; and CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q36. In addition, some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320). [from OMIM]

MedGen UID:
322437
Concept ID:
C1834558
Disease or Syndrome
17.

Mild

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

MedGen UID:
268697
Concept ID:
C1513302
Finding
18.

Open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth. [from HPO]

MedGen UID:
116104
Concept ID:
C0240379
Finding; Spatial Concept
19.

Facial paralysis

Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). [from HPO]

MedGen UID:
98103
Concept ID:
C0427055
Sign or Symptom
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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