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1.

Bethlem myopathy

Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related myopathy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.The intermediate form of collagen VI-related myopathy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their neck, hips, and knees, which further impair movement. There may be joint laxity in the fingers, wrists, toes, ankles, and other joints. Some affected individuals need continuous mechanical ventilation to help them breathe. As in Bethlem myopathy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.Individuals with collagen VI-related myopathy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum. [from GTR]

MedGen UID:
331805
Concept ID:
C1834674
Disease or Syndrome
2.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Myopathy

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

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
4.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
5.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

HELIX SYNDROME

MedGen UID:
1132668
Concept ID:
CN469329
Disease or Syndrome
7.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
8.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
9.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
10.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
11.

Spinobulbar atrophy

MedGen UID:
156268
Concept ID:
C0752353
Disease or Syndrome
12.

Atrophic Muscular Disorder

A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. [from NCI]

MedGen UID:
156267
Concept ID:
C0752352
Disease or Syndrome
13.

Avitene

MedGen UID:
149149
Concept ID:
C0733516
Amino Acid, Peptide, or Protein; Biomedical or Dental Material; Pharmacologic Substance
14.

Neoplasms, Bone Tissue

Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. [from MeSH]

MedGen UID:
104905
Concept ID:
C0206639
Neoplastic Process
15.

Epithelioid Sarcoma

An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
16.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
17.

Disuse muscle atrophy

MedGen UID:
75533
Concept ID:
C0264122
Disease or Syndrome
18.

Connective and Soft Tissue Neoplasm

A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. [from NCI]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
19.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
20.

Muscular dystrophy

A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. [from NCI]

MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
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