Hyperreflexia, and Elevated serum creatine phosphokinase

Diseases related with Hyperreflexia and Elevated serum creatine phosphokinase

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Elevated serum creatine phosphokinase that can help you solving undiagnosed cases.

Top matches:

CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME Is also known as lenk-ploski syndrome

Related symptoms:

  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia
  • Dystonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo|mtdna-related progressive external ophthalmoplegia|maternally-inherited chronic progressive external ophthalmoplegia

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Other less relevant matches:

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 Is also known as progressive external ophthalmoplegia, autosomal recessive 2

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

ADULT-ONSET DYSTONIA-PARKINSONISM Is also known as dystonia-parkinsonism, paisan-ruiz type|dystonia-parkinsonism, adult-onset|pla2g6-related dystonia-parkinsonism|park14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ADULT-ONSET DYSTONIA-PARKINSONISM

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|matr3-related distal myopathy|distal myopathy with vocal cord weakness|vcpdm, formerly|vcpdm

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Nystagmus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Top 5 symptoms//phenotypes associated to Hyperreflexia and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Spasticity Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Unsteady gait Dysphagia Cognitive impairment Seizures Intellectual disability Spastic gait Ataxia Retinopathy Gait disturbance Skeletal muscle atrophy Flexion contracture Myoclonus Rigidity Difficulty walking Postural instability Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Lower limb spasticity Lower limb muscle weakness Parkinsonism Dementia Tremor Generalized hypotonia Progressive muscle weakness Abnormality of the periventricular white matter Short stature Abnormal pyramidal sign Myalgia Pain Cerebellar atrophy Fasciculations Strabismus Mental deterioration Pigmentary retinopathy Motor delay Developmental regression Ventriculomegaly Limb muscle weakness Congenital muscular dystrophy Gowers sign Muscular dystrophy Increased serum lactate Dystonia Hypertonia Proximal muscle weakness Peripheral neuropathy Pachygyria Ankle weakness Vocal cord paresis Inflammatory myopathy Distal upper limb amyotrophy Vertigo Bowing of the vocal cords Headache Abnormality of the calf musculature Abnormality of musculature of pharynx Imperfect vocal cord adduction Abnormality of the extraocular muscles Abnormal upper motor neuron morphology Abnormality of the nasopharynx Decreased nerve conduction velocity Hoarse voice Exercise-induced myalgia Shoulder girdle muscle weakness Bulbar signs Inability to walk Abnormal lower motor neuron morphology Tongue fasciculations Rimmed vacuoles Axial muscle weakness Weak voice Bulbar palsy Mildly elevated creatine phosphokinase Amyotrophic lateral sclerosis Nasal speech Respiratory insufficiency due to muscle weakness Tongue atrophy EMG abnormality Nausea Delayed speech and language development Muscle cramps EMG: myopathic abnormalities Abnormality of the cerebral white matter Macroglossia Waddling gait Intellectual disability, profound Open mouth Joint contracture of the hand Horizontal nystagmus Elbow flexion contracture Abnormal electroretinogram Cerebellar hypoplasia Hypoplasia of the brainstem Skeletal muscle hypertrophy Abnormality of neuronal migration Myopathic facies Lower limb hyperreflexia Achilles tendon contracture Decreased light- and dark-adapted electroretinogram amplitude Cerebellar cyst Facial palsy Myopia Progressive cerebellar ataxia Abnormality of the hand Esotropia Cyanosis Choreoathetosis Muscle stiffness Cerebral palsy Hyperkinesis Slurred speech Incoordination Postural tremor Muscular hypotonia Blurred vision Muscle fibrillation Cerebellar vermis atrophy Aspiration Episodic ataxia Tetany Myokymia Facial myokymia Nystagmus Hypomagnesemia Stiff hip Split hand Abnormal cerebellum morphology Broad-based gait Progressive spastic paraplegia Urinary bladder sphincter dysfunction Abnormality of the cervical spine Hyperintensity of cerebral white matter on MRI Ptosis Ophthalmoplegia Exercise intolerance Dysmetria External ophthalmoplegia Right bundle branch block Bundle branch block Progressive external ophthalmoplegia Progressive ophthalmoplegia Cerebral atrophy Depressivity Urinary incontinence Paraplegia Dyskinesia Craniofacial dystonia Absent speech Falls Frequent falls Drooling Steppage gait Excessive salivation Loss of ability to walk Feeding difficulties Spastic paraplegia Acidosis Lactic acidosis Delayed myelination Progressive neurologic deterioration Leukodystrophy Hypoplasia of the corpus callosum Intellectual disability, mild Aggressive behavior Neurodegeneration Sensory impairment Toe walking Generalized cerebral atrophy/hypoplasia Iron accumulation in brain Microcephaly Scoliosis Cataract Hyporeflexia Hyperlordosis Increased variability in muscle fiber diameter Progressive extrapyramidal movement disorder Spinal rigidity Increased connective tissue Increased adipose tissue Myopathy Respiratory failure Distal muscle weakness Distal sensory impairment Eyelid apraxia Frontotemporal cerebral atrophy Bradykinesia Hand tremor Apraxia Clumsiness Personality changes Global brain atrophy Neurofibrillary tangles Frontotemporal dementia Delusions Hypomimic face Abnormal levels of creatine kinase in blood Supranuclear gaze palsy Dyslexia Focal dystonia Parkinsonism with favorable response to dopaminergic medication Hypometric saccades Vertical supranuclear gaze palsy Paranoia Mild myopia


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