Muscle weakness, and Bradykinesia

Diseases related with Muscle weakness and Bradykinesia

In the following list you will find some of the most common rare diseases related to Muscle weakness and Bradykinesia that can help you solving undiagnosed cases.


Top matches:

Medium match NEMALINE MYOPATHY 6; NEM6


Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 6; NEM6

Medium match ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS


Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).

ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis|cln12 disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Medium match 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY


6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

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Other less relevant matches:

Medium match PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7


Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

Medium match CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME


Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Medium match INHERITED CREUTZFELDT-JAKOB DISEASE


Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

INHERITED CREUTZFELDT-JAKOB DISEASE Is also known as inherited cjd

Related symptoms:

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about INHERITED CREUTZFELDT-JAKOB DISEASE

Medium match SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY


Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY Is also known as mitochondrial encephalomyopathy due to coxpd6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|encephalomyopathy, mitochondrial, x-linked

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2


Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77


Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Top 5 symptoms//phenotypes associated to Muscle weakness and Bradykinesia

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Bradykinesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Cognitive impairment Seizures Ataxia Strabismus Nystagmus Gait ataxia Depressivity Global developmental delay Hallucinations Peripheral neuropathy Dysphagia Rigidity Supranuclear gaze palsy Cerebral cortical atrophy Myoclonus Dysmetria Generalized hypotonia Dementia Anxiety Fasciculations Pes cavus Horizontal nystagmus Aggressive behavior Abnormal pyramidal sign Cerebellar atrophy Gait disturbance

Rare Symptoms - Less than 30% cases


Cerebral atrophy Areflexia Neurogenic bladder Irritability Intellectual disability Falls Ptosis Delayed speech and language development Abnormality of extrapyramidal motor function Chorea Postural tremor Hearing impairment Poor head control Limb muscle weakness Drowsiness Urinary incontinence Sensory axonal neuropathy Progressive cerebellar ataxia Resting tremor Clumsiness Postural instability Abnormality of mitochondrial metabolism Abnormality of eye movement Paraplegia Incoordination Polyneuropathy Peripheral axonal neuropathy Truncal ataxia Spastic paraplegia Spasticity Tetraplegia Parkinsonism Hypoplasia of the corpus callosum Respiratory distress Hyporeflexia Respiratory insufficiency Increased CSF protein Global brain atrophy Insomnia Feeding difficulties in infancy EEG with persistent abnormal rhythmic activity Developmental regression Generalized muscle weakness Central nervous system degeneration Hypersomnia Senile plaques Delusions Trigeminal neuralgia Focal T2 hyperintense basal ganglia lesion Short attention span Progressive extrapyramidal muscular rigidity Abnormal pupillary function Loss of facial expression Akinetic mutism Progressive forgetfulness Astrocytosis Diffuse spongiform leukoencephalopathy Poor visual behavior for age Spastic hemiparesis Vestibular nystagmus Spastic dysarthria Stroke-like episode Amyloidosis of peripheral nerves Neurodegeneration Increased serum lactate Acidosis Dysphonia Dysdiadochokinesis Obsessive-compulsive behavior Axonal degeneration Olivopontocerebellar atrophy Impaired social interactions Scoliosis Retrognathia Paraparesis Muscular hypotonia of the trunk Apnea Small for gestational age Metabolic acidosis Intention tremor Lower limb spasticity Cerebral palsy Vertebral fusion Spastic paraparesis Diplopia Involuntary movements Increased connective tissue Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Increased variability in muscle fiber diameter Hypokinesia Central hypotonia Increased CSF lactate Tongue fasciculations Moderate global developmental delay Psychosis Abnormality of the basal ganglia Increased serum pyruvate Abnormal corpus striatum morphology Behavioral abnormality Intellectual disability, mild Personality changes Brain atrophy Apraxia Emotional lability EMG: axonal abnormality Apathy Pallor Parkinsonism with favorable response to dopaminergic medication Upgaze palsy Abnormal caudate nucleus morphology Muscular hypotonia Motor delay Hypertonia Hypsarrhythmia Diffuse cerebral atrophy Choreoathetosis Clonus Hyperkinesis Agitation Opisthotonus Restlessness Excessive salivation Myokymia Spastic tetraplegia Respiratory failure Difficulty climbing stairs Myopathy Proximal muscle weakness Facial palsy Distal muscle weakness Muscle stiffness Exercise intolerance Difficulty running Abnormal cerebellum morphology Neck muscle weakness Progressive proximal muscle weakness Nemaline bodies Neck flexor weakness Fatigue Mental deterioration Distal sensory impairment Oculogyric crisis Lower limb muscle weakness Slurred speech Motor deterioration Lethargy Progressive visual loss Hemiparesis Limb ataxia Torticollis Progressive sensorineural hearing impairment Episodic ataxia Abnormality of the eye Anarthria Moderate hearing impairment Episodic generalized hypotonia Confusion Neuronal loss in central nervous system Abnormal autonomic nervous system physiology Abnormality of vision Autistic behavior Abnormality of the nervous system Amyotrophic lateral sclerosis Progressive gait ataxia Blepharospasm Psychotic episodes Bulimia Difficulty walking Progressive spastic paraplegia Abnormality of the periventricular white matter Progressive spastic quadriplegia Encephalopathy Facial myokymia Progressive pes cavus Progressive extrapyramidal movement disorder Sensorineural hearing impairment Visual impairment Optic atrophy Blindness Lower limb amyotrophy



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