Muscle Tone Abnormalities: Causes & Reasons

Possible Causes for Muscle Tone Abnormalities

Patients also may have abrupt, irregular, jerky movements (chorea), a combination (choreoathetosis), or slow rhythmic movements with muscle tone abnormalities and abnormal [elkandelk.com]

In GL, rigidospasticity was frequently demonstrated with fluctuation of athetoid movements, while in TP various abnormalities of muscle tone were observed, with rather restricted [ncbi.nlm.nih.gov]

Patients’ face and tongue muscles may be affected, which may cause grimacing and/or drooling. [elkandelk.com]

Aromatic L-Amino Acid Decarboxylase Deficiency

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

People with AADC deficiency usually have abnormal muscle tone, and they often experience movement disorders such as diminished movement or uncontrolled muscle contractions [aadcnews.com]

Other movement disorders can be present such as decreased movements (hypokinesia), increased muscle tone (hypertonia) in the limbs, sustained muscle contraction and abnormal [rarediseases.org]

Primary Apnea

2015 ICD-9-CM Diagnosis Code 770.81 Primary apnea of newborn 2015 Billable Thru Sept 30/2015 Non-Billable On/After Oct 1/2015 Newborn/Neonate Only Dx (0 years) ICD-9-CM 770.81 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 770.81 should only be used for claims with[…] [icd9data.com]

Neonatal Adrenoleukodystrophy

The neonatal form affects both male and female infants and may produce mental retardation, facial abnormalities, seizures, retinal degeneration, poor muscle tone, enlarged [medical-dictionary.thefreedictionary.com]

Common symptoms include mental retardation, facial abnormalities, seizures, weak muscle tone, enlarged liver, and adrenal dysfunction. [simplygoodnaturalfoods.com]

Women who are carriers of the disease occasionally experience the same symptoms, as well as others, including ataxia, hypertonia (excessive muscle tone), mild peripheral neuropathy [medical-dictionary.thefreedictionary.com]

Valinemia

Abnormally low muscle tone (hypotonia); hyperkinesia ; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. [1] [2] Last [rarediseases.info.nih.gov]

Additional features may include abnormally low muscle tone ( muscular hypotonia ), excessive drowsiness, and hyperactivity. [xpertdox.com]

Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. [rareguru.com]

Pyruvate Carboxylase Deficiency

tone, abnormal eye movements, or seizures. [emedicine.com]

They experience neurological problems including weak muscle tone ( hypotonia ), abnormal movements, seizures, and coma. [en.wikipedia.org]

They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. [ghr.nlm.nih.gov]

Canavan Disease

Symptoms include lack of motor development, abnormal muscle tone, difficulty feeding, and an abnormally large head that has poor muscle control. [medicinenet.com]

Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. [rxlist.com]

Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone ( weakness or stiffness), and an abnormally large, poorly controlled head. [medicinenet.com]

Trisomy 12p

Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental [malacards.org]

[…] and muscular activity (psychomotor retardation); mental retardation; abnormally diminished muscle tone (hypotonia); characteristic malformations of the head and facial (craniofacial [rarediseases.org]

This can cause birth defects such as abnormally short and wide hands, diminished muscle tone, or deformities of the head and face. [globalgenes.org]

Atypical Glycine Encephalopathy

Symptoms typically appear during infancy or early childhood and include a lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements [diseaseinfosearch.org]

Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems [ghr.nlm.nih.gov]

The signs and symptoms often include progressive lack of energy (lethargy), feeding difficulties, poor muscle tone ( hypotonia ), abnormal jerking movements (myoclonic jerking [xpertdox.com]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. [ninds.nih.gov]

• Severely reduced muscle tone; • Impaired reflexes and porous bones (osteoporosis). [secure.ssa.gov]

It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large ... 1 ... [familydiagnosis.com]

Carbamoyl Phosphate Synthetase Deficiency

Definition : A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia [sideeffects.embl.de]

tone, abnormal eye movements, and an elevation of serum ammonia. [arl4.library.sk]

Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency Vysvetľujúca pozn. v angl.A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle [arl4.library.sk]

Cerebral Palsy with Spastic Diplegia

Patients also may have abrupt, irregular, jerky movements (chorea), a combination (choreoathetosis), or slow rhythmic movements with muscle tone abnormalities and abnormal [healthcommunities.com]

Hypertonia – Increased muscle tone from expected (See muscle tone). Hypotonia – Decreased muscle tone from expected (See muscle tone). [childneurologyfoundation.org]

Hypertonic Cerebral Palsy Hyerotonic cerebral palsy, also known as hypotonic CP, is a form of the disorder marked by abnormally relaxed muscles and decreased muscle tone. [tovmed-clinic.com]

16p12.2 Microdeletion Syndrome

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

Abnormal facial shape MedGen UID: 98409 •Concept ID: C0424503 • Finding An abnormal morphology (form) of the face or its components. [ncbi.nlm.nih.gov]

Pyruvate Dehydrogenase Deficiency

They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. [medlineplus.gov]

Liver failure, decreased muscle tone (hypotonia), intellectual disability, abnormal eye movements, irregular signs and reflexes due to damage of upper motor neurons (pyramidal [rarediseases.org]

tone, new-onset seizures, periods of incoordination (i.e., ataxia), abnormal eye movements, poor response to visual stimuli, and episodic dystonia. [ncbi.nlm.nih.gov]

Pyruvate Carboxylase Deficiency Type A

They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. [medlineplus.gov]

tone, abnormal eye movements, and seizures. [emedicine.medscape.com]

For muscle tone abnormalities including hypertonia, consider involving appropriate specialists to aid in management of baclofen, Botox®, or orthopedic procedures. [ncbi.nlm.nih.gov]

Tetrasomy 18p

The majority had abnormal muscle tone and about 20% had seizures. [omim.org]

As a result, affected individuals may exhibit several neuromuscular abnormalities, such as increased muscle tone (hypertonia); increased reflex reactions (hyperreflexia), [rarediseases.org]

muscle tone 73 + Brain MRI alterations 63 Not performed Feeding difficulties 56 - Microcephaly 53 + Strabismus 45 + Cryptorchidism 39 - Scoliosis/kyphosis 37 - Recurrent [ncbi.nlm.nih.gov]

Combined Oxidative Phosphorylation Defect Type 37

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

Axial hypotonia MedGen UID: 342959 •Concept ID: C1853743 • Finding Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [ncbi.nlm.nih.gov]

[…] low muscle tone (the amount of tension or resistance to movement in a muscle). [ncbi.nlm.nih.gov]

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

Hypotonia MedGen UID: 10133 •Concept ID: C0026827 • Finding Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). [ncbi.nlm.nih.gov]

Micrognathia MedGen UID: 44428 •Concept ID: C0025990 • Congenital Abnormality Developmental hypoplasia of the mandible. [ncbi.nlm.nih.gov]

Muscle Tone Syndrome AR 99.83 30 of 30 STX1B Generalized Epilepsy With Febrile Seizures Plus AD 100 24 of 24 STXBP1 Early Infantile Epileptic Encephalopathy, Atypical Rett [igenomix.es]

Syndrome X,XR,XD,G 100 NA of NA SPATA5 Epilepsy, Hearing Loss, And Mental Retardation Syndrome, Microcephaly- Intellectual Disability- Sensorineural Hearing Loss-Epilepsy-Abnormal [igenomix.es]

Muscle Tone Syndrome AR 99.83 30 of 30 STX1B Generalized Epilepsy With Febrile Seizures Plus AD 100 24 of 24 STXBP1 Early Infantile Epileptic Encephalopathy, Atypical Rett [igenomix.es]

Syndrome X,XR,XD,G 100 NA of NA SPATA5 Epilepsy, Hearing Loss, And Mental Retardation Syndrome, Microcephaly- Intellectual Disability- Sensorineural Hearing Loss-Epilepsy-Abnormal [igenomix.es]

Trisomy 3

However, in many cases, the disorder is characterized by mental retardation, moderate to severe developmental delays, abnormally diminished muscle tone (hypotonia), distinctive [rarediseases.org]

abnormalities of the head and facial (craniofacial) area, and/or additional physical abnormalities. [rarediseases.org]

Conjugated Hyperbilirubinemia Type 3

In addition, affected infants may suck or nurse weakly, develop a high-pitched cry, and/or exhibit diminished muscle tone (hypotonia), resulting in abnormal “floppiness.” [liverfoundation.org]

[…] severe muscle spasms, including spasms in which the head and heels are bent or arched backward and the body bows forward (opisthotonus); and/or uncontrolled involuntary muscle [liverfoundation.org]

Trisomy 3q2

abnormalities of the head and facial (craniofacial) area, and/or additional physical abnormalities. [rarediseases.org]

16p12.2 Microdeletion

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

Abnormal facial shape MedGen UID: 98409 •Concept ID: C0424503 • Finding An abnormal morphology (form) of the face or its components. [ncbi.nlm.nih.gov]

Partial Monosomy 3p

Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. 2. [encyclopedia.pub]

Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. 3p deletion syndrome [ghr.nlm.nih.gov]

Chromosome 12q Deletion

growth retardation in 6 individuals, feeding difficulties in 8 individuals, muscle tone abnormalities including hypotonia and spasticity in 13 individuals, and movement [frontiersin.org]

tone abnormalities, movement disorders and overlap in dysmorphic features) and the loss-of-function mechanism for some of the variants reported by Machol et al., we propose [frontiersin.org]

[…] knowledge, no whole gene deletion of SMARCC2 has previously been described, but given the overlap in phenotypes (including severe intellectual disability, absence of speech, muscle [frontiersin.org]

Recombinant Chromosome 8 Syndrome

muscle tone with either hypertonia or hypotonia, scoliosis common from neuromuscular origin), urogenital system (cryptorchidism, hypoplastic scrotum, other urinary tract [accessanesthesiology.mhmedical.com]

abnormal muscle tone, and a distinctive facial appearance. [medlineplus.gov]

[…] frequent otitis media), heart (conotruncal defect and tetralogy of Fallot are most common), central nervous system (CNS) (moderate to severe mental retardation, seizure, abnormal [accessanesthesiology.mhmedical.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 4

Ragged-red fibers, a characteristic microscopic abnormality observed in muscle biopsy, are commonly present with this form.[5] In some individuals, encephalomyopathy does [rarediseases.info.nih.gov]

tone), dystrophic posturing, seizures, and coma. [rarediseases.info.nih.gov]

The most severe form begins in infancy and causes life-threatening muscle and nervous system dysfunction (encephalomyopathy), lactic acidosis at birth, hypotonia (poor muscle [rarediseases.info.nih.gov]

Cerebral Calcification - Cerebellar Hypoplasia

Neonatal problems are reported in more than 60% of patients—feeding difficulties, respiratory disorders and/or apnea, abnormal muscle tone, jitterness (3). [frontiersin.org]

Discussion The PCH 2 diagnosis in all three cases was considered because of a combination of the following findings: abnormal muscle tone, extrapyramidal hyperkinesias, severe [frontiersin.org]