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Results: 18

1.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
2.

Error occurred: cannot get document summary

ID:
449624

3.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
4.

Nemaline myopathy

Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Six forms of NM exist, classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%) . Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. Significant differences in survival exist between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk. [from GeneReviews]

MedGen UID:
61528
Concept ID:
C0206157
Disease or Syndrome
5.

Myopathy

Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. [from MeSH]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
6.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
7.

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
8.

Neuromuscular Diseases

A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. [from MeSH]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
9.

Disorder of musculoskeletal system

condition in which there is a deviation from or interruption of the normal structure or function of any muscles, bones, or cartilages of the body. [from CRISP]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
10.

Linkage (Genetics)

The association in inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
11.

Autosomal Dominant Myotubular Myopathy

MedGen UID:
775688
Concept ID:
C3661489
Disease or Syndrome
12.

Nemaline myopathy 1

Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Six forms of NM exist, classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%) . Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. Significant differences in survival exist between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk. [from GeneReviews]

MedGen UID:
373089
Concept ID:
C1836448
Disease or Syndrome
13.

Nemaline Myopathy, Autosomal Recessive

MedGen UID:
199704
Concept ID:
C0751657
Disease or Syndrome
14.

MedGen UID:
155904
Concept ID:
C0751656
15.

MedGen UID:
154265
Concept ID:
C0546125
16.

MedGen UID:
108175
Concept ID:
C0546124
17.

Autosomal recessive centronuclear myopathy

Centronuclear myopathy is a condition that primarily affects skeletal muscles, which are the muscles that are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive. People with autosomal dominant centronuclear myopathy typically have normal early development. However, muscle weakness usually becomes evident during adolescence or early adulthood. The first symptoms are usually muscle pain during exercise and difficulty walking. Muscle weakness progressively worsens, and some people with this condition require wheelchair assistance in mid- to late adulthood. People with this condition may have weakness in the muscles that control eye movement (ophthalmoplegia) and droopy eyelids (ptosis). Rarely, affected individuals have disturbances in nerve function (neuropathy) or intellectual disability. Some people with autosomal dominant centronuclear myopathy are more severely affected and experience muscle weakness in infancy. These individuals walk at a later age than their peers, and they typically need wheelchair assistance in childhood or adolescence. Autosomal recessive centronuclear myopathy is also characterized by progressive muscle weakness, which is usually apparent at birth or begins in childhood. 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). Some people experience mild to severe breathing problems related to the weakness of muscles needed for breathing. Rarely, the heart muscle is weakened (cardiomyopathy). Affected individuals frequently have ptosis, but ophthalmoplegia is less common.
[from GHR]

MedGen UID:
98049
Concept ID:
C0410204
Disease or Syndrome
18.

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); 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; and CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13. In addition, some patients with mutation in the RYR1 gene (180901) can have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320). [from OMIM]

MedGen UID:
322437
Concept ID:
C1834558
Disease or Syndrome

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