Muscle weakness, and Cone/cone-rod dystrophy

Diseases related with Muscle weakness and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Muscle weakness and Cone/cone-rod dystrophy that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Other less relevant matches:

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low match MRCS SYNDROME

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Top 5 symptoms//phenotypes associated to Muscle weakness and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Retinopathy Pigmentary retinopathy Cataract Retinal dystrophy Intellectual disability Blindness Hyperreflexia Growth delay Cerebellar hypoplasia Cerebral atrophy Short stature Abnormality of the eye Motor delay Strabismus Cognitive impairment Anteverted nares Apraxia Oculomotor apraxia Seizures Reduced visual acuity Abnormality of the skeletal system Visual loss

Rare Symptoms - Less than 30% cases

Abnormality of neuronal migration Progressive visual loss Distal amyotrophy Hypertonia Scarring Hypermetropia Abnormality of skin pigmentation Abnormality of retinal pigmentation Respiratory insufficiency Skeletal muscle atrophy Myopia Hepatomegaly Hypertension Abnormal electroretinogram Abnormal facial shape Abnormal retinal morphology Hypertelorism Microphthalmia Ptosis Talipes Cerebellar vermis hypoplasia Glaucoma Molar tooth sign on MRI Pneumonia Protruding ear Nyctalopia Tremor Spasticity Microcephaly Congenital cataract Intellectual disability, severe Frontal bossing Retinal detachment Abnormality of the kidney Cerebellar atrophy Mental deterioration Psychosis Gait disturbance Congestive heart failure Babinski sign Photophobia Dysarthria Feeding difficulties Dysmetria Hydronephrosis Chronic kidney disease Telecanthus Cutaneous finger syndactyly Highly arched eyebrow Nephronophthisis Elevated serum creatinine Recurrent urinary tract infections Multicystic kidney dysplasia Bone marrow hypocellularity Cutis laxa Recurrent pneumonia Cleft palate Hepatic fibrosis Limb undergrowth Recurrent infections Hip dysplasia Micropenis Ectodermal dysplasia Asthma Full cheeks Nephropathy Depressed nasal bridge Decreased light- and dark-adapted electroretinogram amplitude Low-set ears Shallow anterior chamber Pes valgus Abnormality of color vision Broad distal phalanx of finger Chorioretinal atrophy Macular atrophy Retinal atrophy Dyschromatopsia Macular edema Vitreous hemorrhage Cone dysfunction syndrome Cystoid macular edema Scleral staphyloma Retinal arteriolar occlusion Pulverulent cataract Presenile cataracts Retinal neovascularization Moderate myopia Retinal arteriolar constriction Peripheral retinal atrophy Posterior staphyloma Optically empty vitreous Angle closure glaucoma Chorioretinal hypopigmentation Hypothyroidism Sagittal craniosynostosis Abnormality of chorioretinal pigmentation Cleft lip Abnormality of the optic disc Narrow forehead Dilatation Mandibular prognathia Craniosynostosis Pectus excavatum Coarse facial features Thin upper lip vermilion Renal insufficiency Short philtrum Abnormality of the dentition Brachydactyly Hyperthreoninemia Retinal degeneration Hyperthreoninuria Encephalocele Sensorineural hearing impairment Exotropia Low anterior hairline Hemiplegia/hemiparesis High hypermetropia Keratoconus Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Eye poking Pendular nystagmus Fundus atrophy Talipes equinovalgus Aplasia/Hypoplasia of the cerebellar vermis Muscular hypotonia High myopia Growth hormone deficiency Thin vermilion border Tachypnea Recurrent upper respiratory tract infections Bilateral ptosis Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Scoliosis Wide nasal bridge Intrauterine growth retardation Optic atrophy Short distal phalanx of finger Cerebral cortical atrophy Sloping forehead Chorioretinal dysplasia Optic disc pallor Pachygyria Joint hypermobility Stage 5 chronic kidney disease Lymphedema Pointed chin Smooth philtrum Aplasia/Hypoplasia of the cerebellum Narrow chest Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Retinal fold Hearing impairment Adducted thumb Microcornea Hypertrophic cardiomyopathy Hydrometrocolpos Hyperesthesia Pain Fatigue Respiratory distress Cardiomyopathy Myopathy Depressivity Arrhythmia Elevated serum creatine phosphokinase Pes cavus Hyperactivity Proximal muscle weakness Abnormality of the liver Cystic renal dysplasia Dilated cardiomyopathy Limb muscle weakness Distal sensory impairment Chest pain Cardiomegaly Ventricular hypertrophy Atrial fibrillation Palpitations Left ventricular hypertrophy Decreased liver function Cardiac arrest Exercise intolerance Hyperlipidemia Ventricular tachycardia Lower limb hypertonia Distal lower limb muscle weakness EMG: myopathic abnormalities Obesity Failure to thrive Dysphagia Neonatal hypotonia Ophthalmoplegia Sensory impairment Macular degeneration Dysdiadochokinesis Ophthalmoparesis Orofacial dyskinesia Restless legs Hemeralopia Abnormal fundus morphology Peripheral neuropathy Hypogonadism Distal lower limb amyotrophy Polydactyly Rigidity Postaxial polydactyly Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Impaired vibratory sensation Toe walking Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Respiratory insufficiency due to muscle weakness Ventricular arrhythmia Hypopigmentation of the skin Gaze-evoked nystagmus Abnormal cerebellum morphology Gliosis Brain atrophy Intention tremor Progressive muscle weakness Progressive microcephaly Fasciculations Poor head control Congenital contracture Spinal muscular atrophy Hypoplasia of the brainstem Brisk reflexes Global brain atrophy Weak cry Abnormality of the foot Axonal loss Abnormal lower motor neuron morphology Hypoplasia of the pons Tongue fasciculations Degeneration of anterior horn cells Cerebellar cyst Tongue atrophy Atrophy of the spinal cord Motor neuron atrophy Talipes valgus Abnormal anterior horn cell morphology Retrocerebellar cyst Edema Astigmatism Paraplegia Spastic paraplegia Back pain Exercise-induced muscle cramps Neurodevelopmental delay Generalized amyotrophy Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Reduced ejection fraction Wolff-Parkinson-White syndrome Myocardial fibrosis Myofibrillar myopathy Skeletal myopathy Autophagic vacuoles Muscle flaccidity Retinal pigment epithelial mottling Impaired myocardial contractility Severe global developmental delay Ventricular preexcitation Myocardial necrosis Left ventricular systolic dysfunction Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Flexion contracture Absent speech Areflexia Respiratory failure Difficulty walking Muscular hypotonia of the trunk Hip dislocation Broad phalanx of the toes


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