Cognitive impairment, and Elevated serum creatine phosphokinase

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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).

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

• Seizures
• Scoliosis
• Ataxia
• Peripheral neuropathy
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN