Cataract, and Muscle weakness

Diseases related with Cataract and Muscle weakness

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


Top matches:

Low match PROXIMAL MYOTONIC MYOPATHY


Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.

PROXIMAL MYOTONIC MYOPATHY Is also known as ricker syndrome|proximal myotonic dystrophy|myotonic dystrophy type 2|ricker disease

Related symptoms:

  • Cataract
  • Myotonia


SOURCES: ORPHANET MENDELIAN

More info about PROXIMAL MYOTONIC MYOPATHY

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G


Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

Related symptoms:

  • Muscle weakness
  • Cataract
  • Myopathy
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match GYRATE ATROPHY OF CHOROID AND RETINA


Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

Low match PEROXISOME BIOGENESIS DISORDER 11B; PBD11B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

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 Cataract and Muscle weakness

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Lactic acidosis Rare - less than 30% cases
Cognitive impairment Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Visual loss Blindness Myopia Ptosis Sensorineural hearing impairment Congenital cataract Hearing impairment Proximal muscle weakness Lower limb muscle weakness Limb muscle weakness Muscular dystrophy Elevated serum creatine phosphokinase Hyporeflexia Abnormality of metabolism/homeostasis Hepatosplenomegaly Mitochondrial myopathy Optic nerve hypoplasia Leukoencephalopathy Lissencephaly Severe muscular hypotonia Retinal detachment Feeding difficulties Polymicrogyria Visual impairment Cerebellar hypoplasia Respiratory tract infection Microphthalmia Hydrocephalus Hypoplasia of the pons Spasticity Hearing abnormality Central hypotonia Inverted nipples Decreased liver function Progressive muscle weakness Retinal dystrophy Congenital muscular dystrophy Ragged-red muscle fibers External ophthalmoplegia Abnormal muscle fiber protein expression Exercise intolerance Generalized muscle weakness Ophthalmoplegia Hypertrophic cardiomyopathy Myalgia Acidosis Obesity Cardiomyopathy Respiratory distress Dysphagia Fatigue Skeletal muscle atrophy Decreased serum ferritin Type II lissencephaly Infantile axial hypotonia Decreased activity of mitochondrial respiratory chain Rotary nystagmus Progressive sensorineural hearing impairment Bilateral ptosis Reduced tendon reflexes Progressive hearing impairment Dysphonia Gowers sign Hypoplasia of the corpus callosum Muscular hypotonia Nystagmus Cerebellar cyst Cerebellar dysplasia Muscle fiber atrophy Hyperornithinemia Gait disturbance Sensory neuropathy Distal sensory impairment Distal amyotrophy Falls Peripheral axonal neuropathy Paresthesia Abnormality of the foot Distal muscle weakness Gait ataxia Pes cavus Areflexia Edema Peripheral neuropathy Sensory impairment Ataxia Flexion limitation of toes Decreased movement range in interphalangeal joints Proximal upper limb amyotrophy Proximal lower limb amyotrophy Pelvic girdle muscle weakness Shoulder girdle muscle weakness Progressive proximal muscle weakness Rimmed vacuoles Limb-girdle muscular dystrophy Muscle cramps Diabetes mellitus Neutropenia Peripheral demyelination Ornithinuria Abnormality of the eye Hyperlysinuria Chorioretinal degeneration Myotonia Posterior subcapsular cataract Retinal atrophy Subcapsular cataract Chorioretinal atrophy Glucose intolerance Hyperammonemia EMG abnormality Retinal degeneration Nyctalopia EEG abnormality Frequent falls Intellectual disability, mild Delayed speech and language development Intellectual disability Segmental peripheral demyelination Peripheral axonal degeneration Segmental peripheral demyelination/remyelination Sensory ataxia Onion bulb formation Decreased number of peripheral myelinated nerve fibers Axonal degeneration Focal segmental glomerulosclerosis Steppage gait Glomerulosclerosis Skeletal myopathy



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