Cataract, and Proximal muscle weakness

Diseases related with Cataract and Proximal muscle weakness

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


Top 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 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 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

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T

Low match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

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 SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Limb-girdle muscular dystrophy Muscular dystrophy Elevated serum creatine phosphokinase Cognitive impairment

Rare Symptoms - Less than 30% cases


Generalized hypotonia Difficulty walking Intellectual disability, mild Microcephaly Scoliosis Motor delay Gowers sign Exercise intolerance Myalgia Cardiomyopathy Respiratory insufficiency Strabismus Progressive proximal muscle weakness Hyporeflexia Limb muscle weakness Lower limb muscle weakness Myopia Muscle cramps Histiocytoma Diabetes mellitus Muscular hypotonia Nystagmus Osteomyelitis leading to amputation due to slow healing fractures Diaphyseal cortical sclerosis Stenosis of the medullary cavity of the long bones Patchy osteosclerosis Blindness Difficulty climbing stairs Metaphyseal striations Presenile cataracts Fibrosarcoma Limb-girdle muscle atrophy Fractures of the long bones Osteosarcoma Limb-girdle muscle weakness Soft skin Pathologic fracture Premature graying of hair Osteomyelitis Easy fatigability Distal lower limb muscle weakness Neck muscle weakness Rigidity Increased adipose tissue Increased connective tissue Spinal rigidity Increased variability in muscle fiber diameter Toe walking Congenital muscular dystrophy Spastic gait Progressive muscle weakness Lower limb spasticity Abnormal pyramidal sign Hyperlordosis Gait disturbance Sarcoma Hyperreflexia Flexion contracture Spasticity Short stature Fatigable weakness of bulbar muscles Dilatation of the ventricular cavity Distal upper limb muscle weakness Hypoglycosylation of alpha-dystroglycan Proximal muscle weakness in upper limbs Abnormal glycosylation EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Axial muscle weakness Bowing of the legs Skeletal dysplasia Thin skin Muscle fiber atrophy Obesity Flexion limitation of toes Respiratory distress Dysphagia Fatigue Delayed speech and language development Ptosis Hyperornithinemia Ornithinuria Hyperlysinuria Chorioretinal degeneration Posterior subcapsular cataract Decreased movement range in interphalangeal joints Retinal atrophy Subcapsular cataract Chorioretinal atrophy Glucose intolerance Hyperammonemia EMG abnormality Retinal degeneration Nyctalopia Abnormality of the eye EEG abnormality Visual loss Acidosis Hypertrophic cardiomyopathy Bruising susceptibility Rimmed vacuoles Abnormality of metabolism/homeostasis Osteopenia Neoplasm Exercise-induced muscle fatigue Right ventricular dilatation Restrictive ventilatory defect Hyperkinesis Infantile muscular hypotonia Truncal ataxia Chorea Cerebral atrophy Shoulder girdle muscle weakness Ophthalmoplegia Pelvic girdle muscle weakness Skeletal myopathy Mitochondrial myopathy Proximal lower limb amyotrophy Dysphonia Ragged-red muscle fibers External ophthalmoplegia Proximal upper limb amyotrophy Generalized muscle weakness Lactic acidosis Congenital cataract Myotonia



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