Cognitive impairment, and Elevated serum creatine phosphokinase

Diseases related with Cognitive impairment and Elevated serum creatine phosphokinase

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

Top matches:

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 Is also known as multisystem proteinopathy 2|msp2

Related symptoms:

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Myopathy
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.

LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO POMK DEFICIENCY Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related|lgmd due to pomk deficiency

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Motor delay
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO POMK DEFICIENCY

Other less relevant matches:

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENT DISEASE TYPE 2

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53

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

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

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

Symptoms // Phenotype % cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Gowers sign Skeletal muscle atrophy Generalized hypotonia Motor delay

Rare Symptoms - Less than 30% cases

Acidosis Increased serum lactate Feeding difficulties Progressive neurologic deterioration Difficulty walking Pes cavus Areflexia Ataxia Rimmed vacuoles Congenital muscular dystrophy Dementia Tremor Scoliosis Hyporeflexia Centrally nucleated skeletal muscle fibers Frontotemporal dementia Infantile muscular hypotonia Proximal muscle weakness Behavioral abnormality Neonatal hypotonia Visual impairment Abnormality of creatine metabolism Motor deterioration Atonic seizures Absence seizures Clumsiness Syndactyly Cutaneous photosensitivity Febrile seizures Progressive cerebellar ataxia Gait ataxia Peripheral neuropathy Dysarthria Myoclonus Hypoplasia of the corpus callosum Fever Cerebellar atrophy Sensory neuropathy Hypsarrhythmia Encephalopathy Lactic acidosis Increased variability in muscle fiber diameter Respiratory insufficiency due to muscle weakness Torticollis Congenital hip dislocation Waddling gait Dyspnea Leukodystrophy Pachygyria Pigmentary retinopathy Delayed myelination Retinopathy Tetraplegia Developmental regression Ventriculomegaly Hyperreflexia Spasticity Progressive spastic quadriplegia Status epilepticus Progressive proximal muscle weakness Intellectual disability, profound Spastic tetraplegia Epileptic encephalopathy Gliosis Organic aciduria High palate Long fingers Pes planus Hammertoe Spinal muscular atrophy Ragged-red muscle fibers Fasciculations Progressive muscle weakness Intention tremor Sensory impairment Muscle cramps Distal sensory impairment Babinski sign Amyotrophic lateral sclerosis Gait disturbance Difficulty climbing stairs Facial palsy Abnormality of the abdominal musculature Muscle fiber inclusion bodies Mildly elevated creatine phosphokinase Limb-girdle muscular dystrophy Elevated alkaline phosphatase Muscle fiber atrophy Myositis Calf muscle hypertrophy Mitochondrial myopathy Decreased muscle mass Renal tubular acidosis Language impairment Failure to thrive in infancy Aciduria Autistic behavior Autism Intellectual disability, severe Delayed speech and language development Failure to thrive Low-molecular-weight proteinuria Proximal tubulopathy Hypercalciuria Bulbar signs Chronic kidney disease Aminoaciduria Nephrocalcinosis Metabolic acidosis Proteinuria Umbilical hernia Hernia Intellectual disability, mild Short stature Abnormality of the skeletal system Fatty replacement of skeletal muscle


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