Cognitive impairment, and Kyphosis

Diseases related with Cognitive impairment and Kyphosis

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


Top matches:

Low match PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

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Other less relevant matches:

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

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 HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS


Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20


Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53


Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Top 5 symptoms//phenotypes associated to Cognitive impairment and Kyphosis

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Sensory axonal neuropathy Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Kyphosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Muscle weakness Peripheral neuropathy Skeletal muscle atrophy Mental deterioration Pes cavus Kyphoscoliosis Sensorimotor neuropathy Tremor

Rare Symptoms - Less than 30% cases


Dysphonia Paradoxical increased cortisol secretion on dexamethasone suppression test Sensory neuropathy Dysphagia Distal amyotrophy Hypertrichosis Peripheral axonal neuropathy Spasticity Limb dystonia Proximal muscle weakness Dysarthria Motor axonal neuropathy Mood changes Hearing impairment Ataxia Sensorineural hearing impairment Areflexia Pigmented micronodular adrenocortical disease Primary hypercortisolism Decreased circulating ACTH level Osteoporosis Dementia Abnormality of eye movement Motor delay Ophthalmoparesis Difficulty walking Nystagmus Spastic paraplegia Paraplegia Hypertension Adrenal hyperplasia Depressivity Distal sensory impairment Osteopenia Agitation Increased circulating cortisol level Anxiety Bruising susceptibility Round face Striae distensae Truncal obesity Psychosis Thin skin Progressive ophthalmoplegia Generalized hypotonia Horizontal supranuclear gaze palsy Pain Optic atrophy Hyporeflexia Abnormality of extrapyramidal motor function Hyperhidrosis Progressive spastic paraplegia Hyperreflexia proximally Exaggerated startle response Delayed gross motor development Optic disc pallor Multiple joint contractures Distal lower limb amyotrophy Impaired vibration sensation in the lower limbs Decreased number of peripheral myelinated nerve fibers Hyporeflexia of lower limbs Hypoventilation Ptosis Moon facies Abnormality of the auditory canal Hyperreflexia in upper limbs Impaired proprioception Cortical dysplasia Impaired vibratory sensation Clonus Lower limb spasticity Joint hyperflexibility Pectus carinatum Hypertonia Ventriculomegaly Delayed speech and language development Failure to thrive Microcephaly Adrenocortical carcinoma Polyhydramnios Carcinoma Cerebral cortical atrophy Obesity Neoplasm Bulbar signs Saccadic smooth pursuit Neck muscle weakness Delayed ability to walk Bulbar palsy Stridor Poor suck Arthrogryposis multiplex congenita Apnea Facial palsy Facial myokymia Hyperreflexia Myokymia Gait ataxia Upper limb postural tremor Eunuchoid habitus Torsion dystonia Laryngeal dystonia Blepharospasm Generalized dystonia Toe walking Dysdiadochokinesis Torticollis Narrow face Involuntary movements Open mouth Respiratory distress Sunken cheeks Inappropriate behavior Morphological abnormality of the pyramidal tract Senile plaques Lewy bodies Neurofibrillary tangles Alzheimer disease Bradykinesia Parkinsonism Postural instability Falls Abnormal pyramidal sign Rigidity Lingual dystonia Movement abnormality of the tongue Hypoplasia of the pons Foot dorsiflexor weakness Pendular nystagmus Thoracolumbar scoliosis Progressive external ophthalmoplegia Congenital nystagmus External ophthalmoplegia Ophthalmoplegia Paralysis Cerebellar hypoplasia Short neck Seizures Ankle contracture Abnormality of the hand Fasciculations Intellectual disability Sensory impairment Lower limb muscle weakness Abnormality of the foot Limb muscle weakness Babinski sign Hypoplasia of the corpus callosum Impaired pain sensation Hammertoe Decreased nerve conduction velocity Sleep disturbance Distal muscle weakness Elevated serum creatine phosphokinase Upper limb hypertonia



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