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1.

Miyoshi muscular dystrophy 1

Dysferlinopathy includes a spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness. Miyoshi myopathy (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes are scapuloperoneal syndrome, distal myopathy with anterior tibial onset, elevated serum CK concentration only, and congenital muscular dystrophy. [from GTR]

MedGen UID:
338128
Concept ID:
C1850808
Disease or Syndrome
2.

Miyoshi myopathy

MedGen UID:
833924
Concept ID:
CN230453
Disease or Syndrome
3.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
4.

Myopathy

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

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
5.

Atrophy

Any weakening or degeneration, especially through lack of use. [from NCI]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
6.

Muscle atrophy

Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [from MeSH]

MedGen UID:
7754
Concept ID:
C0026846
Pathologic Function
7.

Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy). [from HPO]

MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
8.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
9.

Lassitude

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
10.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
11.

Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
12.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
13.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
14.

Spinobulbar atrophy

MedGen UID:
156268
Concept ID:
C0752353
Disease or Syndrome
15.

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
16.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
17.

Family health status

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. [from MeSH]

MedGen UID:
109024
Concept ID:
C0600220
Finding
18.

Disuse muscle atrophy

MedGen UID:
75533
Concept ID:
C0264122
Disease or Syndrome
19.

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
20.

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
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