Cataract, and Skeletal muscle atrophy

Diseases related with Cataract and Skeletal muscle atrophy

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


Top matches:

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

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

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Other less relevant matches:

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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64


Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Is also known as spg64

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

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

Low match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

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 HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT 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

Top 5 symptoms//phenotypes associated to Cataract and Skeletal muscle atrophy

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
Ataxia 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 Skeletal muscle atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Congenital cataract Intellectual disability, moderate Dysarthria Spasticity Gait disturbance Global developmental delay Lower limb muscle weakness Limb muscle weakness

Rare Symptoms - Less than 30% cases


Motor delay Onion bulb formation Axonal degeneration Scoliosis Myalgia Microcephaly Proximal muscle weakness Hyporeflexia Abnormality of metabolism/homeostasis Generalized hypotonia Truncal ataxia Strabismus Gait ataxia Poor speech Areflexia Progressive proximal muscle weakness Cognitive impairment Hyperreflexia Peripheral neuropathy Limb-girdle muscular dystrophy Babinski sign Tremor Intention tremor Exercise-induced muscle fatigue Infantile muscular hypotonia Chorea Right ventricular dilatation Restrictive ventilatory defect Hyperkinesis Difficulty walking Hypoplasia of the brainstem Cerebral atrophy Myopia Nonprogressive cerebellar ataxia Gaze-evoked nystagmus Cortical gyral simplification Toe walking Intellectual disability, mild Dysdiadochokinesis Abnormality of vision Cerebral palsy Pachygyria Broad-based gait Progressive cerebellar ataxia Arachnodactyly Dysmetria Feeding difficulties CNS hypomyelination Muscular hypotonia of the trunk Fractures of the long bones Bowing of the legs Osteomyelitis Premature graying of hair Pathologic fracture Soft skin Limb-girdle muscle weakness Osteosarcoma Limb-girdle muscle atrophy Thin skin Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Patchy osteosclerosis Stenosis of the medullary cavity of the long bones Diaphyseal cortical sclerosis Sarcoma Bruising susceptibility Developmental regression Motor polyneuropathy Abnormal pyramidal sign Polyneuropathy Abnormal cerebellum morphology Leukodystrophy Decreased motor nerve conduction velocity Axonal loss Titubation Lower limb amyotrophy Skeletal dysplasia Loss of ability to walk Cerebral hypomyelination Cerebral white matter atrophy Truncal titubation Progressive cataract Neoplasm Osteopenia Abnormality of movement Rimmed vacuoles Abnormality of the eye Sensory neuropathy Talipes equinovarus Muscular dystrophy Segmental peripheral demyelination Peripheral axonal degeneration Segmental peripheral demyelination/remyelination Sensory ataxia Decreased number of peripheral myelinated nerve fibers Focal segmental glomerulosclerosis Steppage gait Glomerulosclerosis Frequent falls Peripheral demyelination Sensory impairment Neutropenia Distal sensory impairment Diabetes mellitus Muscle cramps Shoulder girdle muscle weakness Pelvic girdle muscle weakness Proximal lower limb amyotrophy Proximal upper limb amyotrophy Decreased movement range in interphalangeal joints Flexion limitation of toes Edema Distal amyotrophy Pes cavus Distal muscle weakness Abnormality of the foot Paresthesia Peripheral axonal neuropathy Falls Aggressive behavior Spastic paraplegia Neonatal hypotonia Nystagmus Ragged-red muscle fibers Dysphonia Gowers sign Mitochondrial myopathy Skeletal myopathy Short stature Muscular hypotonia Exercise intolerance Delayed speech and language development Intellectual disability, severe Cerebellar atrophy Absent speech Cerebellar hypoplasia Pes planus External ophthalmoplegia Generalized muscle weakness Abnormality of the cerebral white matter Fatigue Elevated serum creatine phosphokinase Delayed puberty Paraplegia Unsteady gait Intellectual disability, borderline Ptosis Dysphagia Lactic acidosis Respiratory distress Cardiomyopathy Obesity Acidosis Hypertrophic cardiomyopathy Ophthalmoplegia Osteomyelitis leading to amputation due to slow healing fractures



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