Cognitive impairment, and Proximal muscle weakness

Diseases related with Cognitive impairment and Proximal muscle weakness

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


Top matches:

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


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

Low match LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO POMK DEFICIENCY


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

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Other less relevant matches:

Low match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


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

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73


Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


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

Low match AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X


Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Top 5 symptoms//phenotypes associated to Cognitive impairment and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gowers sign Seizures Motor delay Dementia Pes cavus Spasticity Muscular dystrophy

Rare Symptoms - Less than 30% cases


Spastic paraplegia Ptosis Progressive spastic paraplegia Peripheral neuropathy Ragged-red muscle fibers Hyperreflexia Dysphagia Abnormality of the foot Limb muscle weakness Paraplegia Urinary incontinence Lower limb spasticity Spastic gait Fatigue Impaired vibration sensation in the lower limbs Infantile muscular hypotonia Urinary urgency Lower limb muscle weakness Hyporeflexia Neonatal hypotonia Congenital muscular dystrophy Intellectual disability Areflexia Generalized hypotonia Sensorineural hearing impairment Flexion contracture Tremor Gait disturbance Hypoplasia of the corpus callosum Ataxia Fasciculations Kyphoscoliosis Hearing impairment Ankle contracture Sensory axonal neuropathy Abnormality of the hand Peripheral axonal neuropathy Foot dorsiflexor weakness Distal amyotrophy Distal sensory impairment Sensory impairment Mitochondrial myopathy Sensorimotor neuropathy Congenital cataract Dysarthria Exercise intolerance Lactic acidosis Hypertrophic cardiomyopathy Generalized muscle weakness Myalgia Acidosis Obesity Cardiomyopathy Respiratory distress Cataract Frontal lobe dementia Pseudobulbar signs Ophthalmoplegia Frontotemporal dementia Bulbar palsy Amyotrophic lateral sclerosis Akinesia Abnormality of mitochondrial metabolism Parkinsonism Rigidity Cerebral cortical atrophy Increased variability in muscle fiber diameter External ophthalmoplegia Dysphonia Fatty replacement of skeletal muscle Distal muscle weakness Respiratory insufficiency due to muscle weakness High palate Long fingers Decreased muscle mass Language impairment Failure to thrive in infancy Aciduria Autistic behavior Autism Behavioral abnormality Intellectual disability, severe Delayed speech and language development Failure to thrive Organic aciduria Global developmental delay Difficulty climbing stairs Facial palsy Abnormality of the abdominal musculature Muscle fiber inclusion bodies Centrally nucleated skeletal muscle fibers Rimmed vacuoles Mildly elevated creatine phosphokinase Limb-girdle muscular dystrophy Elevated alkaline phosphatase Hypertonia Progressive proximal muscle weakness Abnormality of creatine metabolism Torticollis Impaired distal vibration sensation Congenital hip dislocation Waddling gait Dyspnea Scoliosis Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Sensory neuropathy Difficulty walking Arthritis Strabismus Abnormal lower-limb motor evoked potentials Progressive pes cavus Abnormality of the cerebrospinal fluid Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Distal lower limb muscle weakness Distal lower limb amyotrophy Impaired vibratory sensation EMG abnormality Skeletal myopathy



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