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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 GeneReviews]

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

Misdiagnosis

Incorrect conclusion as to source or cause of illness. [from MeSH]

MedGen UID:
146837
Concept ID:
C0679838
Finding
3.

Eichsfeld type congenital muscular dystrophy

Multiminicore disease (MmD) is broadly classified into four groups: Classic form (75% of individuals). Moderate form, with hand involvement (<10%). Antenatal form, with arthrogryposis multiplex congenita (<10%). Ophthalmoplegic form (<10%). Onset of the classic form is usually congenital or early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement (often with secondary cardiac impairment). Spinal rigidity of varying severity is present. [from GeneReviews]

MedGen UID:
98047
Concept ID:
C0410180
Disease or Syndrome
4.

Muscular dystrophy

Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
44527
Concept ID:
C0026850
Congenital Abnormality; Disease or Syndrome
5.

Polymyositis

An idiopathic inflammatory disorder affecting the muscles. It presents with symmetrical proximal muscle weakness and elevated skeletal muscle enzymes. [from NCI]

MedGen UID:
39086
Concept ID:
C0085655
Disease or Syndrome
6.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Error occurred: cannot get document summary

ID:
854883

8.

Miyoshi myopathy

MedGen UID:
833924
Concept ID:
CN230453
Disease or Syndrome
9.

Rigid spine syndrome

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. [from ORDO]

MedGen UID:
830953
Concept ID:
CN206872
Congenital Abnormality
10.

Weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
11.

Vesicle

A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin [from SNOMED CT]

MedGen UID:
568991
Concept ID:
C0333262
Acquired Abnormality; Disease or Syndrome
12.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
13.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
14.

Weakness

The property of lacking physical or mental strength; liability to failure under pressure or stress or strain. (WordNet) [from NCI]

MedGen UID:
362950
Concept ID:
C1883552
Sign or Symptom
15.

Spinal rigidity

Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. [from HPO]

MedGen UID:
346721
Concept ID:
C1858025
Finding
16.

Limb-girdle muscular dystrophy, type 2B

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 GeneReviews]

MedGen UID:
338149
Concept ID:
C1850889
Disease or Syndrome
17.

Camptocormism

An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. [from HPO]

MedGen UID:
120496
Concept ID:
C0264162
Acquired Abnormality; Finding
18.

Axial

Situated on or along or in the direction of an axis. (WordNet) [from NCI]

MedGen UID:
64380
Concept ID:
C0205131
Spatial Concept
19.

Kyphosis

Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. [from MeSH]

MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality; Finding
20.

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
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