Abnormality of the skeletal system, and Hypertonia

Diseases related with Abnormality of the skeletal system and Hypertonia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hypertonia that can help you solving undiagnosed cases.


Top matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME


This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Low match 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY


3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

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Other less relevant matches:

Low match FETAL METHYLMERCURY SYNDROME


Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21


Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Hypertonia
  • Muscular hypotonia of the trunk


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59


Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

Low match MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22

Low match HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME


Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Related symptoms:

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

Low match ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Hypertonia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Limb hypertonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Hypertonia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


EMG abnormality Generalized hypotonia Muscular hypotonia Short stature Lower limb spasticity Spastic gait Clonus Lower limb hyperreflexia Medulloblastoma Respiratory distress Gait disturbance Limitation of joint mobility Reduced tendon reflexes Abnormality of the cerebral white matter Dysphagia Hypothyroidism Myalgia Ophthalmoplegia Muscle cramps Chest pain Myotonia Ophthalmoparesis Abnormal cerebellum morphology Increased serum lactate Spastic paraplegia Cerebral atrophy Spasticity Rigidity Status epilepticus Muscle stiffness Hemiplegia Growth delay Failure to thrive Intrauterine growth retardation Postnatal growth retardation Talipes equinovarus Brain atrophy Absence seizures Hearing impairment Visual impairment Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Hepatic steatosis Cognitive impairment Nystagmus Skeletal muscle hypertrophy



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