Muscle Hypotonia: Causes & Reasons

Possible Causes for Muscle Hypotonia

[…] prominently involved organ leading to hypotonia and weakness, PD is also classified as a metabolic myopathy.17 Due to the general hypotonia and respiratory muscle weakness [ncbi.nlm.nih.gov]

Progressive proximal muscle weakness Absence of reflexes Difficulties in feeding Elevated levels of CK Congenital muscular dystrophy Severe hypotonia Severe weakness in muscles [ncbi.nlm.nih.gov]

Infantile-onset Pompe Disease (IOPD) occurs within the first year of life, and symptoms include cardiomegaly, respiratory failure, and hypotonia. [ncbi.nlm.nih.gov]

Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. [ncbi.nlm.nih.gov]

Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults. [nlm.nih.gov]

[…] tone (hypotonia) and muscle weakness at birth. [rarediseases.org]

Short Chain Acyl CoA Dehydrogenase Deficiency

Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports. [ncbi.nlm.nih.gov]

Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features. [mayomedicallaboratories.com]

[…] tone (hypotonia), small head size, and behavior changes. [diseaseinfosearch.org]

Nemaline Myopathy Type 4

People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face [malacards.org]

The main clinical manifestations include weakness (usually most severe in the face, the neck flexors and the proximal limb muscles), hypotonia and depressed or absent deep [orpha.net]

Genetics Home Reference : 25 Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. [malacards.org]

Aromatic L-Amino Acid Decarboxylase Deficiency

Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis [encyclopedia.pub]

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina). [thinkgenetic.com]

Symptoms include irritability, sleeping more than usual, tiredness, vomiting, poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), [diseaseinfosearch.org]

[…] tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). [smpdb.ca]

Muscular Dystrophy-Dystroglycanopathy Type B6

[…] tone (hypotonia) and muscle weakness at birth. [rarediseases.org]

We selected patients with the Occidental, non-FCMD, who fulfilled the following diagnostic criteria: (1) muscle weakness and hypotonia during early infancy, delayed developmental [n.neurology.org]

Babies with congenital muscular dystrophy often appear "floppy" (this may also be described by doctors as low muscle tone or hypotonia). [treat-nmd.eu]

Congenital Muscular Dystrophy Type 1A

[…] tone (hypotonia) and muscle weakness at birth. [rarediseases.org]

In children over 8 there may be muscle contractions, muscle pain etc. (1) Causes of hypotonia Hypotonia in an infant may be due to multiple causes. [news-medical.net]

[…] tone ( hypotonia ) and muscle weakness at birth. [rarediseases.info.nih.gov]

Dopamine Beta-Hydroxylase Deficiency

Ptosis, skeletal muscle hypotonia, and recurrent hypoglycaemia had been noticed in early childhood. [ncbi.nlm.nih.gov]

First symptoms often start during a complicated perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycemia. [ncbi.nlm.nih.gov]

Mitochondrial Trifunctional Protein Deficiency

Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems [liquisearch.com]

Signs and symptoms of the early onset form can include feeding difficulties, lack of energy ( lethargy ), low blood sugar ( hypoglycemia ), muscle weakness ( hypotonia ), [wikidoc.org]

The symptoms may include irritability, sleeping longer, tiredness, vomiting, weak muscle tone (hypotonia), poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), [diseaseinfosearch.org]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. [pediatricneurologybriefs.com]

muscle weakness and cardiomyopathy at birth and died at the age of 8 months from heart failure. [semanticscholar.org]

As Leigh’s disease progresses, symptoms may also include generalized weakness; loss of muscle tone (hypotonia); and/or episodes of lactic acidosis. [rarediseases.org]

Pompe Disease

Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. [kmle.co.kr]

hypotonia respiratory distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy [medbullets.com]

[…] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile [icd9data.com]

Glycogen Storage Disease Type 4

Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. [icd10data.com]

Affected infants have severe hypotonia, which affects the muscles needed for breathing. [ghr.nlm.nih.gov]

[…] tone ( hypotonia ); muscle weakness and wasting; joints having fixed positions ( contractures ); and neurologic involvement, which can cause life-threatening complications [rarediseases.info.nih.gov]

Leigh's Disease

An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase [ncbi.nlm.nih.gov]

At 14 months, his developmental milestones slowed and muscle hypotonia appeared. [ajnr.org]

Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). [mitoaction.org]

Rigid Spine Syndrome

Characteristics of SEPN1-RM / SELENON Rigid spine Scoliosis Muscle weakness Hypotonia Limited flexion Poor head control Restrictive respiratory Reduced vital capacity and [curecmd.org]

Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. [encyclopedia.pub]

Both, seen at ages 9- and 10-years, presented with delays in motor development milestones, generalized hypotonia, muscle weakness, which was more at the proximal than at distal [cags.org.ae]

Monosomy 1p36 Syndrome

Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). [malacards.org]

Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone). [rarediseases.oscar.ncsu.edu]

Carnitine Transporter Deficiency

Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure. [orpha.net]

Children with the childhood myopathic (cardiac) type usually present between ages two to four with heart disease (cardiomyopathy), low muscle tone (hypotonia), skeletal muscle [rarediseases.org]

Some children with the infantile presentation may also have symptoms of muscle disease. [rarediseases.org]

Alpers Syndrome

In addition, affected individuals may develop weak muscle tone (hypotonia) that worsens until they lose the ability to control their muscles and movement. [rarediseases.oscar.ncsu.edu]

hypotonia generally arises in infants before they are 6 months old, their muscles begin wasting away, and there is delay in psychomotor learning (learning basic skills like [en.wikipedia.org]

Sometime epilepsy develops. [5] In MDDS associated with mutations in RRM2B that primarily affect the brain and muscle, there is again hypotonia in the first months, symptoms [en.wikipedia.org]

Muscular Dystrophy-Dystroglycanopathy Type C4

Fukuyama congenital muscular dystrophy is a more severe disorder characterized by brain malformations, hypotonia and muscle weakness. [sema4genomics.com]

Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe [natera.com]

Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. [mybiosource.com]

Wolf-Hirschhorn Syndrome

Generalized muscle hypotonia was observed at birth. [ncbi.nlm.nih.gov]

It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure [flipper.diff.org]

hypotonia and congenital heart defects. [semanticscholar.org]

Wiedemann-Steiner Syndrome

Muscular hypotonia Muscle hypotonia, Low or weak muscle tone Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle [rarediseases.oscar.ncsu.edu]

Wiedemann-Steiner syndrome is a rare genetic disorder that causes global developmental delays, unusual facial features, short stature, and reduction in muscle tone (hypotonia [diseasemaps.org]

[…] tone (hypotonia). [en.wikipedia.org]

Spinal Muscular Atrophy Type 1

Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia ) due to loss of the lower [rarediseases.info.nih.gov]

Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles [rarediseases.info.nih.gov]

Spinal Muscular Atrophy Type 4

Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, and varying degrees of bulbar weakness [amboss.com]

They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). [ispub.com]

[…] weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [rarediseases.info.nih.gov]

Prader-Willi Syndrome

Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger [rarediseases.about.com]

(hypotonia) learning difficulties lack of sexual development behavioural problems, such as temper tantrums or stubbornness Read more about symptoms of Prader-Willi syndrome [nhs.uk]

(hypotonia) learning difficulties lack of sexual development behavioural challenges, such as emotional outbursts and physical aggression Read more about symptoms of Prader-Willi [nhs.uk]

Partial Monosomy 18q

The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature. [malacards.org]

Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder. [ghr.nlm.nih.gov]

However, characteristic features include short stature; mental retardation; poor muscle tone (hypotonia); malformations of the hands and feet; and abnormalities of the skull [rarediseases.org]

Zellweger Syndrome

The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder. [ncbi.nlm.nih.gov]

Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA ; SENSORINEURAL HEARING LOSS ; visual compromise; SEIZURES [hon.ch]

Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; muscle hypotonia; sensorineural hearing loss; visual compromise; seizures [icd10data.com]

Lissencephaly

Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities [disabilitybenefitscenter.org]

Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall. [ghr.nlm.nih.gov]

Hypotonia also affects the muscles used for breathing, which often causes breathing problems that can lead to a life-threatening bacterial lung infection known as aspiration [ghr.nlm.nih.gov]

Myoadenylate Deaminase Deficiency

We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING [semanticscholar.org]

In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear [ghr.nlm.nih.gov]

However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. [semanticscholar.org]

Methylmalonic Acidemia

Clinical description Clinical signs include lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, and muscle hypotonia, as well as developmental [orpha.net]

=8), muscle hypotonia (n=8), recurrent vomiting (n=4), tremor (n=2), ataxia (n=2), and abnormal posture (n=1).The onset age of seizure ranged from 8 days to 11 years. [ncbi.nlm.nih.gov]

These 27 patients were also accompanied with other neurological manifestations including mental retardation or regression (n=22), lethargy (n=10), increased muscle tone (n [ncbi.nlm.nih.gov]

Cerebellotrigeminal Dermal Dysplasia

[…] tone (hypotonia) Ataxia Behavioral abnormalities Intellectual disability Developmental delay Craniofacial abnormalities Seizures Corneal opacities (clouding of the clear [medifind.com]

Other symptoms may include low muscle tone (hypotonia), behavioral issues, intellectual disability, seizures, a short stature, a short and broad skull, low set ears and decreased [fdna.health]

[…] neurological disorder that causes numbness of the face, eyes, sinuses, and mouth Scalp alopecia - partial or complete hair loss Other signs and symptoms vary but may include: Poor muscle [medifind.com]