From HPO
Shoulder girdle muscle weakness- MedGen UID:
- 96533
- •Concept ID:
- C0427063
- •
- Finding
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Gowers sign- MedGen UID:
- 65865
- •Concept ID:
- C0234182
- •
- Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Achilles tendon contracture- MedGen UID:
- 98052
- •Concept ID:
- C0410264
- •
- Anatomical Abnormality
A contracture of the Achilles tendon.
Diaphragmatic weakness- MedGen UID:
- 101067
- •Concept ID:
- C0521532
- •
- Finding
A decrease in the strength of the diaphragm.
Congenital muscular dystrophy- MedGen UID:
- 147063
- •Concept ID:
- C0699743
- •
- Disease or Syndrome
Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).
Spinal rigidity- MedGen UID:
- 346721
- •Concept ID:
- C1858025
- •
- Finding
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Generalized muscle hypertrophy- MedGen UID:
- 811969
- •Concept ID:
- C3805639
- •
- Finding
Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.
Pectoralis amyotrophy- MedGen UID:
- 868664
- •Concept ID:
- C4023066
- •
- Disease or Syndrome
Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.
Sternocleidomastoid amyotrophy- MedGen UID:
- 868665
- •Concept ID:
- C4023067
- •
- Disease or Syndrome
Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system