Hypotonia is a state of low muscle tone

Muscle tone

In physiology, medicine, and anatomy, muscle tone is the continuous and passive partial contraction of the muscles, or the muscle’s resistance to passive stretch during resting state. It helps maintain posture, and it declines during REM sleep.-Purpose:Unconscious nerve impulses maintain the...

 (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain

Brain

The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...

 or muscle strength. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing

Medical diagnosis

Medical diagnosis refers both to the process of attempting to determine or identify a possible disease or disorder , and to the opinion reached by this process...

 the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy

Physical therapy

Physical therapy , often abbreviated PT, is a health care profession. Physical therapy is concerned with identifying and maximizing quality of life and movement potential within the spheres of promotion, prevention, diagnosis, treatment/intervention,and rehabilitation...

 and/or occupational therapy

Occupational therapy

Occupational therapy is a discipline that aims to promote health by enabling people to perform meaningful and purposeful activities. Occupational therapists work with individuals who suffer from a mentally, physically, developmentally, and/or emotionally disabling condition by utilizing treatments...

 for remidiation.

Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum’s facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity. On examination a diminished resistance to passive movement will be noted and muscles may feel abnormally soft and limp on palpation. Diminished deep tendon reflexes also may be noted.

Hypotonia is a condition that can be helped with early intervention.

Etiology of hypotonia

Some conditions known to cause hypotonia include:

Congenital - i.e. disease you are born with (including genetic disorders presenting within 6 months)

• Genetic disorder
  Genetic disorder
  A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
  
  s are the most common cause
  • Down syndrome
    Down syndrome
    Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
    
     - most common
  • 22q13 deletion syndrome
    22q13 deletion syndrome
    22q13 Deletion Syndrome , also known as Phelan-McDermid Syndrome, is a genetic disorder caused by a microdeletion on chromosome 22. The deletion occurs at the terminal end of the chromosome at the location designated q13.3...
    
    
  • 3-Methylcrotonyl-CoA carboxylase deficiency
    3-methylcrotonyl-CoA carboxylase deficiency
    3-Methylcrotonyl-CoA carboxylase deficiency , also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins...
    
    
  • Achondroplasia
    Achondroplasia
    Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
    
    
  • Aicardi syndrome
    Aicardi syndrome
    Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms...
    
    
  • Canavan disease
    Canavan disease
    Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
    
    
  • Centronuclear myopathy
    Centronuclear myopathy
    Centronuclear myopathies are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery....
    
     (including myotubular myopathy)
  • Central core disease
    Central core disease
    Central core disease , also known as central core myopathy, is an autosomal dominant congenital myopathy . It was first described by Shy and Magee in 1956...
    
    
  • Dejerine Sottas syndrome
    Dejerine Sottas Syndrome
    Dejerine–Sottas disease, also Dejerine–Sottas syndrome or Dejerine–Sottas neuropathy is an autosomal dominant or autosomal recessive neuropathy.-Causes:It has been associated with MPZ, PMP22, PRX, and EGR2.-Symptoms:It is usually characterized...
    
     (HMSN Type III)
  • Familial dysautonomia
    Familial dysautonomia
    Familial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...
    
     (Riley-Day syndrome)
  • FG syndrome
    FG syndrome
    FG syndrome is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays...
    
    
  • Fragile X syndrome
    Fragile X syndrome
    Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
    
    
  • Griscelli syndrome
    Griscelli syndrome
    Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, that usually causes death by early childhood.-Types:...
    
     Type 1 (Elejalde Syndrome)
  • Disorder Growth Hormone Disorder Pituitary Dwarfism
  • Infantile spinal muscular atrophy such as Werdnig-Hoffman disease
  • Krabbe disease
    Krabbe disease
    Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
    
    
  • Leigh's disease
    Leigh's disease
    Leigh's disease, also known as Subacute Necrotizing Encephalomyelopathy , is a rare neurometabolic disorder that affects the central nervous system...
    
    
  • Marfan's syndrome
  • Menkes syndrome
  • Methylmalonic acidemia
    Methylmalonic acidemia
    Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
    
    
  • Myotonic dystrophy
    Myotonic dystrophy
    Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
    
    
  • Niemann-Pick disease
    Niemann-Pick disease
    Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...
    
    
  • Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy
    Glycine encephalopathy
    Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine...
    
     (GCE)
  • Prader-Willi syndrome
    Prader-Willi syndrome
    Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
    
    
  • Rett syndrome
    Rett syndrome
    Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
    
    
  • Septo-optic dysplasia
    Septo-optic dysplasia
    Septo-optic dysplasia , also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia of the optic nerve and absence of the septum pellucidum...
    
     (de Morsier syndrome)
  • Spinal Muscular Atrophy
    Spinal muscular atrophy
    Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
    
     (SMA)
  • Tay-Sachs disease
    Tay-Sachs disease
    Tay–Sachs disease is an autosomal recessive genetic disorder...
    
    
  • Trisomy 13
  • Williams syndrome
    Williams syndrome
    Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
    
    

• Developmental disability
  Developmental disability
  Developmental disability is a term used in the United States and Canada to describe lifelong disabilities attributable to mental or physical impairments, manifested prior to age 18. It is not synonymous with "developmental delay" which is often a consequence of a temporary illness or trauma during...
  
  
  • Cerebellar ataxia
    Ataxia
    Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
    
     (congenital)
  • Sensory integration dysfunction
    Sensory Integration Dysfunction
    Sensory integration dysfunction is a neurological disorder characterized by a neurological sensory integration deficit. The more current diagnostic nosology uses the term sensory processing disorder to describe this condition....
    
    
  • Developmental dyspraxia
  • Hypothyroidism
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
     (congenital)
  • Hypotonic cerebral palsy
    Cerebral palsy
    Cerebral palsy is an umbrella term encompassing a group of non-progressive, non-contagious motor conditions that cause physical disability in human development, chiefly in the various areas of body movement....
    
    
  • Teratogenesis from in utero exposure to Benzodiazepines

Acquired

Acquired - i.e. onset occurs after birth

• Genetic
  • Muscular dystrophy
    Muscular dystrophy
    Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
    
     (including Myotonic dystrophy
    Myotonic dystrophy
    Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
    
    ) - most common
  • Metachromatic leukodystrophy
    Metachromatic leukodystrophy
    Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...
    
    
  • Rett Syndrome
    Rett syndrome
    Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
    
    
  • Spinal Muscular Atrophy
    Spinal muscular atrophy
    Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
    
    

• Infection
  Infection
  An infection is the colonization of a host organism by parasite species. Infecting parasites seek to use the host's resources to reproduce, often resulting in disease...
  
  s
  • Encephalitis
    Encephalitis
    Encephalitis is an acute inflammation of the brain. Encephalitis with meningitis is known as meningoencephalitis. Symptoms include headache, fever, confusion, drowsiness, and fatigue...
    
    
  • Guillain-Barré syndrome
    Guillain-Barré syndrome
    Guillain–Barré syndrome , sometimes called Landry's paralysis, is an acute inflammatory demyelinating polyneuropathy , a disorder affecting the peripheral nervous system. Ascending paralysis, weakness beginning in the feet and hands and migrating towards the trunk, is the most typical symptom...
    
    
  • Infant botulism
  • Meningitis
    Meningitis
    Meningitis is inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. The inflammation may be caused by infection with viruses, bacteria, or other microorganisms, and less commonly by certain drugs...
    
    
  • Poliomyelitis
    Poliomyelitis
    Poliomyelitis, often called polio or infantile paralysis, is an acute viral infectious disease spread from person to person, primarily via the fecal-oral route...
    
    
  • Sepsis
    Sepsis
    Sepsis is a potentially deadly medical condition that is characterized by a whole-body inflammatory state and the presence of a known or suspected infection. The body may develop this inflammatory response by the immune system to microbes in the blood, urine, lungs, skin, or other tissues...
    
    

• Toxins
  • Infantile acrodynia (childhood mercury poisoning
    Mercury poisoning
    Mercury poisoning is a disease caused by exposure to mercury or its compounds. Mercury is a heavy metal occurring in several forms, all of which can produce toxic effects in high enough doses...
    
    )

• Autoimmunity
  Autoimmunity
  Autoimmunity is the failure of an organism to recognize its own constituent parts as self, which allows an immune response against its own cells and tissues. Any disease that results from such an aberrant immune response is termed an autoimmune disease...
  
   disorders
  • Myasthenia gravis
    Myasthenia gravis
    Myasthenia gravis is an autoimmune neuromuscular disease leading to fluctuating muscle weakness and fatiguability...
    
     - most common
  • Abnormal vaccine reaction
  • Celiac Disease

• Metabolic disorder
  • Hypervitaminosis
  • Kernicterus
    Kernicterus
    Kernicterus is damage to the brain centers of infants caused by increased levels of unconjugated bilirubin. This may be due to several underlying pathologic processes. Newborn babies are often polycythemic. When they break down the erythrocytes, one of the byproducts is bilirubin, which circulates...
    
    
  • Rickets
    Rickets
    Rickets is a softening of bones in children due to deficiency or impaired metabolism of vitamin D, magnesium , phosphorus or calcium, potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries...
    
    

• Neurological
  • Traumatic brain injury
    Traumatic brain injury
    Traumatic brain injury , also known as intracranial injury, occurs when an external force traumatically injures the brain. TBI can be classified based on severity, mechanism , or other features...
    
    , such as the damage that is caused by Shaken Baby Syndrome
    Shaken baby syndrome
    Shaken baby syndrome is a triad of medical symptoms: subdural hematoma, retinal hemorrhage, and brain swelling from which doctors, consistent with current medical understanding, infer child abuse caused by intentional shaking...
    
    
  • Lower motor neuron lesions
  • Upper motor neuron lesions

• Miscellaneous
  • Central nervous system
    Central nervous system
    The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
    
     dysfunction, including Cerebellar lesions
  • Hypothyroidism
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
    
  • Sandifer syndrome
    Sandifer syndrome
    Sandifer syndrome is a rare paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features There is a significant correlation between the syndrome and gastroesophageal reflux disease , however it is estimated to occur in less than 1% of children with...
    
    

Signs and objective manifestations

Hypotonic patients may display a variety of objective manifestations that indicate decreased muscle tone. Motor skills delay is often observed, along with hypermobile or hyperflexible joints, drooling and speech difficulties, poor reflexes, decreased strength, decreased activity tolerance, rounded shoulder posture, with leaning onto supports, and poor attention and motivation. The extent and occurrence of specific objective manifestations depends upon the age of the patient, the severity of the hypotonia, the specific muscles affected, and sometimes the underlying cause. For instance, some people with hypotonia may experience constipation, while others have no bowel problems.

Floppy baby syndrome

The term "floppy infant syndrome" is used to describe abnormal limpness when an infant is prone.

Infants who suffer from hypotonia are often described as feeling and appearing as though they are "rag dolls," a "sack of jello" or a "pillow full of pudding" easily slipping through one's hands. This image demonstrates the floppiness of a hypotonic infant. They are unable to maintain flexed ligament

Ligament

In anatomy, the term ligament is used to denote any of three types of structures. Most commonly, it refers to fibrous tissue that connects bones to other bones and is also known as articular ligament, articular larua, fibrous ligament, or true ligament.Ligament can also refer to:* Peritoneal...

s, and are able to extend them beyond normal lengths. Often, the movement of the head

Head

In anatomy, the head of an animal is the rostral part that usually comprises the brain, eyes, ears, nose and mouth . Some very simple animals may not have a head, but many bilaterally symmetric forms do....

 is uncontrollable, not in the sense of spasmatic movement, but chronic

Chronic (medicine)

A chronic disease is a disease or other human health condition that is persistent or long-lasting in nature. The term chronic is usually applied when the course of the disease lasts for more than three months. Common chronic diseases include asthma, cancer, diabetes and HIV/AIDS.In medicine, the...

 ataxia

Ataxia

Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...

. Hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding

Breastfeeding

Breastfeeding is the feeding of an infant or young child with breast milk directly from female human breasts rather than from a baby bottle or other container. Babies have a sucking reflex that enables them to suck and swallow milk. It is recommended that mothers breastfeed for six months or...

 latch.

Developmental delay

Children with normal muscle tone are expected to achieve certain physical abilities within an average timeframe after birth. Most low-tone infants have delayed developmental milestones, but the length of delay can vary widely. Motor skills are particularly susceptible to the low-tone disability. They can be divided into two areas, gross motor skills, and fine motor skills, both of which are affected. Hypotonic infants are late in lifting their heads while lying on their stomachs, rolling over, lifting themselves into a sitting position, remaining seated without falling over, balancing, crawling, and walking. Fine motor skills delays occur in grasping a toy or finger, transferring a small object from hand to hand, pointing out objects, following movement with the eyes, and self feeding.

Speech difficulties can result from hypotonia. Low-tone children learn to speak later than their peers, even if they appear to understand a large vocabulary, or can obey simple commands. Difficulties with muscles in the mouth and jaw can inhibit proper pronunciation, and discourage experimentation with word combination and sentence-forming. Since the hypotonic condition is actually an objective manifestation of some underlying disorder, it can be difficult to determine whether speech delay

Speech delay

Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech. Speech, as distinct from language, refers to the actual process of making sounds, using such organs and structures as the lungs, vocal cords, mouth, tongue, teeth, etc...

s are a result of poor muscle tone, or some other neurological condition, such as mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, that may be associated with the cause of hypotonia. Additionally, lower muscle tone can be caused by Mikhail-Mikhail syndrome, which is characterized by muscular atrophy and cerebellar ataxia which is due to abnormalities in the ATXN1 gene.

Muscle tone vs. muscle strength

The low muscle tone associated with hypotonia must not be confused with low muscle strength or the definition commonly used in body building. Neurologic

Neurology

Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...

 muscle tone is a manifestation of periodic action potentials from motor neurons. As it is an intrinsic property of the nervous system, it cannot be changed through voluntary control, exercise, or diet.

"True muscle tone

Muscle tone

In physiology, medicine, and anatomy, muscle tone is the continuous and passive partial contraction of the muscles, or the muscle’s resistance to passive stretch during resting state. It helps maintain posture, and it declines during REM sleep.-Purpose:Unconscious nerve impulses maintain the...

 is the inherent ability of the muscle to respond to a stretch

Stretching

Stretching is a form of physical exercise in which a specific skeletal muscle is deliberately elongated, often by abduction from the torso, in order to improve the muscle's felt elasticity and reaffirm comfortable muscle tone. The result is a feeling of increased muscle control, flexibility and...

. For example, quickly straighten the flexed elbow of an unsuspecting child with normal tone, will cause their biceps

Biceps

Biceps may refer to:*Biceps brachii muscle, a muscle located on the inside of the upper arm*Biceps femoris muscle, one of the hamstring muscles of the back of each thigh*Biceps , a point in a metrical pattern...

 to contract in response (automatic protection against possible injury). When the perceived danger has passed, (which the brain figures out once the stimulus is removed), the muscle relaxes and returns to its normal resting state."

"...The child with low tone has muscles that are slow to initiate a muscle contraction

Muscle contraction

Muscle fiber generates tension through the action of actin and myosin cross-bridge cycling. While under tension, the muscle may lengthen, shorten, or remain the same...

, contract very slowly in response to a stimulus, and cannot maintain a contraction for as long as his 'normal' peers. Because these low-toned muscles do not fully contract before they again relax (muscle accommodates to the stimulus and so shuts down again), they remain loose and very stretchy, never realizing their full potential of maintaining a muscle contraction over time. "

Diagnosis

"A diagnosis of hypotonia is sometimes considered a form of muscular dystrophy or cerebral palsy, depending on the symptoms and the doctor. If the cause of the hypotonia is thought to lie in the brain, then it might be classified as a cerebral palsy. If the cause seems to be in the muscles, it might be classified as a muscular dystrophy, even though most forms of hypotonia are not seriously dystrophic. If the cause is thought to be in the nerves, it could be classified as either or neither. In any case, hypotonia is rarely an actual muscular dystrophy or cerebral palsy, and is often not classified as either one, or anything at all for that matter."

Diagnosing a patient includes obtaining family medical history and a physical examination, and may include such additional tests as computerized tomography (CT) scans, magnetic resonance imaging

Magnetic resonance imaging

Magnetic resonance imaging , nuclear magnetic resonance imaging , or magnetic resonance tomography is a medical imaging technique used in radiology to visualize detailed internal structures...

 (MRI) scans, electroencephalogram (EEG), blood test

Blood test

A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a needle, or via fingerprick....

s, genetic testing

Genetic testing

Genetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic...

 (such as chromosome karyotyping

Karyotype

A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...

 and tests for specific gene abnormalities), spinal taps

Lumbar puncture

A lumbar puncture is a diagnostic and at times therapeutic procedure that is performed in order to collect a sample of cerebrospinal fluid for biochemical, microbiological, and cytological analysis, or very rarely as a treatment to relieve increased intracranial pressure.-Indications:The...

, electromyography

Electromyography

Electromyography is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph, to produce a record called an electromyogram. An electromyograph detects the electrical potential generated by muscle...

 muscle tests, or muscle and nerve biopsy

Biopsy

A biopsy is a medical test involving sampling of cells or tissues for examination. It is the medical removal of tissue from a living subject to determine the presence or extent of a disease. The tissue is generally examined under a microscope by a pathologist, and can also be analyzed chemically...

.

Mild or benign hypotonia is often diagnosed by physical and occupational therapists through a series of exercises designed to assess developmental progress, or observation of physical interactions. Since a hypotonic child has difficulty deciphering his spatial location, he may have some recognizable coping mechanisms, such as locking the knees while attempting to walk. A common sign of low-tone infants is a tendency to observe the physical activity of those around them for a long time before attempting to imitate, due to frustration over early failures. Developmental delay can indicate hypotonia.

Other names for hypotonia

• Low Muscle Tone
• Benign Congenital Hypotonia
• Congenital Hypotonia
• Congenital Muscle Hypotonia
• Congenital Muscle Weakness
• Amyotonia Congenita
• Floppy Baby Syndrome
• Infantile Hypotonia

Prognosis and treatment

There is currently no known treatment or cure for most (or perhaps all) causes of hypotonia, and objective manifestations can be life long. The outcome in any particular case of hypotonia depends largely on the nature of the underlying disease. In some cases, muscle tone improves over time, or the patient may learn or devise coping mechanisms that enable them to overcome the most disabling aspects of the disorder. However, hypotonia caused by cerebellar dysfunction or motor neuron diseases can be progressive and life-threatening.

Along with normal pediatric care, specialists who may be involved in the care of a child with hypotonia include developmental pediatricians (specialize in child development), neurologists, neonatologists (specialize in the care of newborns), geneticists, occupational therapists, physical therapists, speech therapists, orthopedists, pathologists (conduct and interpret biochemical tests and tissue analysis), and specialized nursing care.

If the underlying cause is known, treatment is tailored to the specific disease, followed by symptomatic and supportive therapy for the hypotonia. In very severe cases, treatment may be primarily supportive, such as mechanical assistance with basic life functions like breathing and feeding, physical therapy to prevent muscle atrophy and maintain joint mobility, and measures to try to prevent opportunistic infections such as pneumonia. Treatments to improve neurological status might involve such things as medication for a seizure disorder, medicines or supplements to stabilize a metabolic disorder, or surgery to help relieve the pressure from hydrocephalus

Hydrocephalus

Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...

 (increased fluid in the brain).

The National Institute of Neurological Disorders and Stroke

National Institute of Neurological Disorders and Stroke

The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health . It conducts and funds research on brain and nervous system disorders and has a budget of just over US$1.5 billion...

 states that physical therapy can improve motor control and overall body strength in individuals with hypotonia. This is crucial to maintaining both static and dynamic postural stability, which is important since postural instability is a common problem in people with hypotonia. A physiotherapist can develop patient specific training programs to optimize postural control, in order to increase balance and safety. To protect against postural asymmetries the use of supportive and protective devices may be necessary. Physical therapists might use neuromuscular/sensory stimulation techniques such as quick stretch, resistance, joint approximation, and tapping to increase tone by facilitating or enhancing muscle contraction in patients with hypotonia. For patients who demonstrate muscle weakness in addition to hypotonia strengthening exercises that do not overload the muscles are indicated. Electrical Muscle Stimulation

Electrical muscle stimulation

Electrical muscle stimulation , also known as neuromuscular electrical stimulation or electromyostimulation, is the elicitation of muscle contraction using electric impulses...

, also known as Neuromuscular Electrical Stimulation (NMES) can also be used to “activate hypotonic muscles, improve strength, and generate movement in paralyzed limbs while preventing disuse atrophy (p.498).” When using NMES it is important to have the patient focus on attempting to contract the muscle(s) being stimulated. Without such concentration on movement attempts, carryover to volitional movement is not feasible. NMES should ideally be combined with functional training activities to improve outcomes.

Occupational therapy can be used to assist with fine motor skill development and hand control, and speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs." Ankle/foot orthoses are sometimes used for weak ankle muscles. Toddlers and children with speech difficulties may benefit greatly by using sign language

Sign language

A sign language is a language which, instead of acoustically conveyed sound patterns, uses visually transmitted sign patterns to convey meaning—simultaneously combining hand shapes, orientation and movement of the hands, arms or body, and facial expressions to fluidly express a speaker's...

.

External links

• Exercises and Stimulation Therapy for Hypotonia from Early Parent Intervention Project (ARC Texas)
• Early recognition and intervention is the key to recovery for Benign Congenital Hypotonia Shannon Munro Cohen, RNC, BSN, and Teresa Whitt, Ph.D.
• Overview at National Organization of Rare Disorders
• Encyclopedia of Children's Health