Intellectual disability, and Muscle weakness

Diseases related with Intellectual disability and Muscle weakness

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

Top matches:

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Other less relevant matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 Is also known as muscular dystrophy, congenital, fktn-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Edema
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 76; RP76

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Muscle weakness
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability and Muscle weakness

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Rare Symptoms - Less than 30% cases

Short stature Progressive spasticity Lower limb spasticity Hyperreflexia Aggressive behavior Recurrent hypoglycemia Stereotypy Hypoglycemic seizures Edema Pica Spastic diplegia Impulsivity Self-injurious behavior Poor head control Hypoglycemic coma Rod-cone dystrophy Choreoathetosis Fasting hyperinsulinemia Abnormality of the autonomic nervous system Muscular hypotonia of the trunk Absent speech Abnormality of nervous system physiology Behavioral abnormality Blindness Reduced visual acuity Hyperinsulinemic hypoglycemia Fatigue Hand tremor Hyperinsulinemia Type II diabetes mellitus Hypoketotic hypoglycemia Coma Hypoglycemia Diabetes mellitus Peripapillary atrophy Pallor Retinal thinning Cystoid macular edema Delayed speech and language development Peripheral visual field loss Chorioretinal atrophy Constriction of peripheral visual field Optic disc pallor Nyctalopia Macular edema Motor axonal neuropathy Intellectual disability, moderate Brain atrophy Abnormality of the dentition Atrial septal defect Feeding difficulties Cryptorchidism Cleft palate Strabismus Absence seizures Postnatal growth retardation Autistic behavior Cerebral atrophy Intrauterine growth retardation Failure to thrive Growth delay Hemiplegia Muscle stiffness Status epilepticus Rigidity Patent ductus arteriosus Hypermetropia Pes planus Babinski sign Ataxia Lower limb hypertonia Spastic gait Lower limb muscle weakness Paraplegia Spastic paraplegia Pes cavus Intellectual disability, mild Thin vermilion border Gait disturbance Peripheral neuropathy Congenital muscular dystrophy Generalized muscle weakness Muscular dystrophy Elevated serum creatine phosphokinase Motor delay Coarctation of aorta Abnormal C-peptide level


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