Diseases and Conditions

Our Team Our Mission Make an Appointment Definition of Hypotonia Conditions Associated with Hypotonia Research View or Print Brochure

Each year, thousands of patients are told they have some form of hypotonia.  However, most often, the underlying cause remains unidentified.  Hypotonia can be a symptom of over 400 different disorders.  In addition, many other conditions are yet waiting to be identified.  Therefore, we have established a pragmatic and multidisciplinary approach toward identifying the underlying cause of hypotonia, which will enable us to adapt specific therapies for the individual patient. 

Below is a list of mostly genetic diseases which can be associated with hypotonia.  It needs to be emphasized that there are several acquired conditions which can lead to hypotonia as an initial presenting symptom. 

This list is by no means complete, but serves as a categorical overview presenting how various systems of the body can lead to hypotonia.   As a general rule, hypotonia can be classified as central or peripheral. Central hypotonia originates from the central nervous system , while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscle.  Often, central and peripheral hypotonia are co-existent in several disease conditions. 

Central Hypotonia

• Structural brain anomalies
  • Schizencephlay
  • Holoprosencephaly
  • Lissencephaly
    
• Miller-Dieker syndrome
  
• Muscle-eye brain diseases
  
• Inborn errors of metabolism
  • Mitochondrial encephalomyopathies
  • Fatty acid oxidation defects
  • Glutaric aciduria type I and II
  • Peroxisomal disorders
  • Cholesterol metabolism defects
    
• Smith-Lemli-Opitz syndrome

• Congential disorders of glycosylation

• Other Neurogenetic Conditions
  • Leukodystrophies
  • Familial Dysautonomia
  • Sphingolipidoses

• Chromosomal disorders
  • Prader-Willi syndrome
  • Williams syndrome
  • Trisomy 21
  • Other structural chromosomal abnormalities        

• Benign central hypotonia
  
• Peripheral Hypotonia
  
• Structural changes of the spinal cord

• Connective tissue disorders
  • Marfan syndrome
  • Ehlers-Danlos syndrome
  • Loeys-Dietz syndrome
  • Cutis Laxa-syndrome
  • Camurati-Engelman syndrome
  • Osteogenesis imperfecta

• Lower Motor neuron
  • Spinal Muscular Atrophies (type I-III)
  • Spinal Muscular Atrophy with Respiratory Distress (SMARD1)

• Neuromuscular junction
  • Myasthenia Gravis

• Skeletal muscle
  • Muscular dystrophies
    
• Duchenne/Becker muscular dystrophy
  
• Limb-girdle muscular dystrophies
  
• Sarcoglycan deficient MD (LGMD 2)
  
• FKRP
  
• Calpain deficient MD
  
• Caveolin
  
• Dysferlin
  
• Telethonin
  
• Laminin alpha2 deficient congenital muscular dystrophy
  
• Congenital muscular dystrophies associated with abnormal glycosylation of alpha-dystroglycan
  
• Distal muscular dystrophies/myopathies
  
• Congenital myopathies
  
• Nemaline myopathy
  
• Central core disease
  
• X-linked myotubular myopathy
  
• Myotonic dystrophy
  
• Metabolic myopathies
  
• Mitochondrial myopathies
    
• Lipid storage myopathies
  
• Glycogen-storage myopathies
  
• Pompe disease
  
• Myoadenylate deaminase deficiency
  
• Carnitine palmitoyl transferase deficiency type II