Myopathy, and Waddling gait

Diseases related with Myopathy and Waddling gait

In the following list you will find some of the most common rare diseases related to Myopathy and Waddling gait that can help you solving undiagnosed cases.


Top matches:

High match MIYOSHI MUSCULAR DYSTROPHY 3; MMD3

MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 Is also known as miyoshi myopathy 3;mmd3; miyoshi muscular dystrophy type 3

Related symptoms:

  • Autosomal recessive inheritance
  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: ORPHANET OMIM MONDO UMLS MESH

More info about MIYOSHI MUSCULAR DYSTROPHY 3; MMD3

High match MYOPATHY, SPHEROID BODY

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

MYOPATHY, SPHEROID BODY Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Muscle weakness
  • Myopathy
  • Dysphagia
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM GARD DOID ORPHANET MESH UMLS MONDO

More info about MYOPATHY, SPHEROID BODY

High match MYOPATHY, MYOFIBRILLAR, 5; MFM5

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

MYOPATHY, MYOFIBRILLAR, 5; MFM5 Is also known as myopathy, myofibrillar, filamin c-related, filaminopathy, autosomal dominant;

Related symptoms:

  • Autosomal dominant inheritance
  • Muscle weakness
  • Pain
  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET DOID MONDO OMIM UMLS MESH

More info about MYOPATHY, MYOFIBRILLAR, 5; MFM5

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Other less relevant matches:

High match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Autosomal dominant inheritance
  • Muscle weakness
  • Myopathy
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: MONDO OMIM UMLS DOID

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

High match ZEBRA BODY MYOPATHY

) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Facial palsy
  • Proximal muscle weakness
  • Neonatal hypotonia


SOURCES: SCTID ORPHANET MONDO UMLS

More info about ZEBRA BODY MYOPATHY

High match SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related;x-linked spmd; x-linked scapuloperoneal syndrome

Related symptoms:

  • Myopathy
  • Flexion contracture
  • Skeletal muscle atrophy
  • Arrhythmia
  • Hyporeflexia


SOURCES: OMIM UMLS MONDO ORPHANET

More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

High match MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY Is also known as myopathy, congenital, due to integrin alpha-7 deficiency;congenital muscular dystrophy with itga7 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Motor delay


SOURCES: OMIM UMLS ORPHANET GARD MONDO MESH DOID

More info about MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY

High match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Myopathy
  • Nevus
  • Delayed speech and language development


SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

High match MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Muscle weakness
  • Myopathy


SOURCES: OMIM

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O

DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O Is also known as cdg io;cdgio, cdg1(dpm3);cdg syndrome type io; cdg-io; cdg1o; carbohydrate deficient glycoprotein syndrome type io; congenital disorder of glycosylation type 1o; congenital disorder of glycosylation type io

Related symptoms:

  • Autosomal recessive inheritance
  • Muscle weakness
  • Myopathy
  • Pain
  • Cardiomyopathy


SOURCES: GARD MONDO MESH OMIM ORPHANET UMLS

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O

Top 5 symptoms//phenotypes associated to Myopathy and Waddling gait

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
Increased variability in muscle fiber diameter Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Distal muscle weakness Rimmed vacuoles Lower limb muscle weakness Calf muscle hypertrophy Muscle fiber splitting Autosomal dominant inheritance Gowers sign Myofibrillar myopathy Scapular winging Adult onset Difficulty climbing stairs

Rare Symptoms - Less than 30% cases


Progressive muscle weakness Facial palsy Babinski sign Hyporeflexia Pelvic girdle muscle weakness Neonatal hypotonia Dysphagia Dilated cardiomyopathy Torticollis Myalgia Nemaline bodies Motor delay Scoliosis Difficulty walking Generalized hypotonia Cardiomyopathy Pain Proximal amyotrophy Flexion contracture Centrally nucleated skeletal muscle fibers Broad-based gait Skeletal muscle atrophy Slow progression Limb muscle weakness Congenital hip dislocation Respiratory insufficiency due to muscle weakness Congenital muscular dystrophy Type I transferrin isoform profile Dyspnea Infantile onset Cognitive impairment Intellectual disability Scapuloperoneal myopathy Scapuloperoneal amyotrophy Steppage gait Infantile muscular hypotonia Cirrhosis Fatty replacement of skeletal muscle Stroke-like episode Skeletal muscle hypertrophy Reduced tendon reflexes Chest pain Intellectual disability, profound Stroke Pes planus Elevated hepatic transaminase Hyperlordosis Fatigue Pelvic girdle muscle atrophy Elevated creatine kinase after exercise Calf muscle pseudohypertrophy Foot dorsiflexor weakness Limb-girdle muscle weakness Myoglobinuria Myopathic facies Juvenile onset Delayed speech and language development Nevus Milia Shoulder girdle muscle atrophy Global developmental delay X-linked dominant inheritance Areflexia Pes cavus Gait disturbance Peripheral neuropathy Muscle fiber cytoplasmatic inclusion bodies Abnormal peripheral nervous system morphology Low back pain Back pain Ranula Respiratory insufficiency Distal sensory impairment Neck flexor weakness Absent Achilles reflex Onset Nasal speech Abnormality of metabolism/homeostasis Quadriceps muscle atrophy Difficulty running Exercise intolerance Progressive Peripheral axonal neuropathy Confusion Decreased fetal movement Arrhythmia Handgrip myotonia Muscle fiber necrosis Autophagic vacuoles Axial muscle weakness Limb-girdle muscular dystrophy Neck muscle weakness EMG: myopathic abnormalities Upper limb amyotrophy Falls Lower limb amyotrophy Upper limb muscle weakness EMG: neuropathic changes Ragged-red muscle fibers Sensory axonal neuropathy Impaired vibratory sensation Pyloric stenosis Frequent falls Sensory impairment Decreased sialylation of O-linked protein glycosylation



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