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Results 71 - 80 of 135 for Abnormal muscle tone
  1. Collagen VI-related dystrophy 
    ... People with Bethlem muscular dystrophy usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at ... the hands and soles of the feet; and abnormal wound healing that creates shallow scars.The intermediate ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  2. Cap myopathy 
    ... cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most ... scoliosis).The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  3. Glycogen storage disease type III 
    ... The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The ... All AGL gene mutations lead to storage of abnormal, partially broken down glycogen molecules within cells. A ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iii - Genetics
  4. Central core disease 
    ... in the muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems. ... of the cell, in many affected individuals. These abnormal regions can only been seen when muscle tissue ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  5. Glutaric acidemia type I 
    ... and may experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding ... their intermediate breakdown products to build up to abnormal levels, especially at times when the body is ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  6. Spastic paraplegia type 49 
    ... Spastic paraplegia type 49 often begins with weak muscle tone (hypotonia) that starts in infancy. During childhood, spasticity ... develop recurrent episodes of severe weakness, hypotonia, and abnormal breathing, which can be life threatening. By early ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  7. NGLY1-congenital disorder of deglycosylation 
    ... skills, such as sitting and walking, and weak muscle tone (hypotonia). Many affected individuals have movement abnormalities, such ... N-glycanase 1, helps cells get rid of abnormal proteins. It removes chains of sugars (glycans) from ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  8. DOLK-congenital disorder of glycosylation 
    ... and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, ... the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  9. LMNA-related congenital muscular dystrophy 
    ... conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early ... of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  10. Wolf-Hirschhorn syndrome 
    ... weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as ... mottled or dry skin; skeletal abnormalities, such as abnormal curvature of the spine (scoliosis and kyphosis); dental ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics
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